{"count":220437,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2034","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2032","results":[{"created":"2019-12-19T12:29:56.809599+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP1A1 as Green List (high evidence)","entity_name":"ATP1A1","entity_type":"gene"},{"created":"2019-12-19T12:29:56.802518+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp1a1 has been classified as Green List (High Evidence).","entity_name":"ATP1A1","entity_type":"gene"},{"created":"2019-12-19T12:29:29.048686+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP1A1 was added\ngene: ATP1A1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP1A1 were set to 30388404\nPhenotypes for gene: ATP1A1 were set to Intellectual disability; seizures; hypomagnesaemia\nReview for gene: ATP1A1 was set to GREEN\nAdded comment: Three infants with de novo missense variants in this gene; seizures persisted despite correction of magnesium, intellectual disability is part of the phenotype. Note gene is also linked to CMT and possibly HSP. \nSources: Literature","entity_name":"ATP1A1","entity_type":"gene"},{"created":"2019-12-19T12:25:26.932550+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1429","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP1A1 as ready","entity_name":"ATP1A1","entity_type":"gene"},{"created":"2019-12-19T12:25:26.925251+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1429","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp1a1 has been classified as Green List (High Evidence).","entity_name":"ATP1A1","entity_type":"gene"},{"created":"2019-12-19T12:25:18.797410+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1429","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP1A1 as Green List (high evidence)","entity_name":"ATP1A1","entity_type":"gene"},{"created":"2019-12-19T12:25:18.790336+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1429","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp1a1 has been classified as Green List (High Evidence).","entity_name":"ATP1A1","entity_type":"gene"},{"created":"2019-12-19T12:25:07.405182+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1428","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP1A1 was added\ngene: ATP1A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP1A1 were set to 30388404\nPhenotypes for gene: ATP1A1 were set to Intellectual disability; seizures; hypomagnesaemia\nReview for gene: ATP1A1 was set to GREEN\nAdded comment: Three infants with de novo missense variants in this gene; seizures persisted despite correction of magnesium, intellectual disability is part of the phenotype. Note gene is also linked to CMT and possibly HSP. \nSources: Literature","entity_name":"ATP1A1","entity_type":"gene"},{"created":"2019-12-19T12:15:38.438914+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.369","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLS1 as ready","entity_name":"PLS1","entity_type":"gene"},{"created":"2019-12-19T12:15:38.431820+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.369","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pls1 has been classified as Green List (High Evidence).","entity_name":"PLS1","entity_type":"gene"},{"created":"2019-12-19T12:15:28.167664+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.369","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLS1 as Green List (high evidence)","entity_name":"PLS1","entity_type":"gene"},{"created":"2019-12-19T12:15:28.160384+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.369","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pls1 has been classified as Green List (High Evidence).","entity_name":"PLS1","entity_type":"gene"},{"created":"2019-12-19T12:15:09.674391+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.368","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLS1 was added\ngene: PLS1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLS1 were set to 31397523; 31432506; 30872814\nPhenotypes for gene: PLS1 were set to Deafness\nReview for gene: PLS1 was set to GREEN\nAdded comment: Non-syndromic deafness in 5 families with mono allelic variants in this gene. Mouse model. \nSources: Literature","entity_name":"PLS1","entity_type":"gene"},{"created":"2019-12-19T12:13:13.954137+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLS1 as ready","entity_name":"PLS1","entity_type":"gene"},{"created":"2019-12-19T12:13:13.947301+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pls1 has been classified as Green List (High Evidence).","entity_name":"PLS1","entity_type":"gene"},{"created":"2019-12-19T12:13:09.355775+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLS1 as Green List (high evidence)","entity_name":"PLS1","entity_type":"gene"},{"created":"2019-12-19T12:13:09.348934+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pls1 has been classified as Green List (High Evidence).","entity_name":"PLS1","entity_type":"gene"},{"created":"2019-12-19T12:12:40.990093+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLS1 was added\ngene: PLS1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLS1 were set to 31397523; 31432506; 30872814\nPhenotypes for gene: PLS1 were set to Deafness\nReview for gene: PLS1 was set to GREEN\nAdded comment: Non-syndromic deafness in 5 families with mono allelic variants in this gene. Mouse model. \nSources: Literature","entity_name":"PLS1","entity_type":"gene"},{"created":"2019-12-19T11:59:07.113314+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.367","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TASP1 as ready","entity_name":"TASP1","entity_type":"gene"},{"created":"2019-12-19T11:59:07.105919+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.367","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tasp1 has been classified as Green List (High Evidence).","entity_name":"TASP1","entity_type":"gene"},{"created":"2019-12-19T11:58:56.278826+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.367","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TASP1 as Green List (high evidence)","entity_name":"TASP1","entity_type":"gene"},{"created":"2019-12-19T11:58:56.271994+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.367","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tasp1 has been classified as Green List (High Evidence).","entity_name":"TASP1","entity_type":"gene"},{"created":"2019-12-19T11:58:32.626126+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.366","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TASP1 was added\ngene: TASP1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TASP1 were set to 31209944; 31350873\nPhenotypes for gene: TASP1 were set to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities\nReview for gene: TASP1 was set to GREEN\nAdded comment: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another infant with a de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present. \nSources: Literature","entity_name":"TASP1","entity_type":"gene"},{"created":"2019-12-19T11:56:25.499065+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TASP1 as ready","entity_name":"TASP1","entity_type":"gene"},{"created":"2019-12-19T11:56:25.492148+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tasp1 has been classified as Green List (High Evidence).","entity_name":"TASP1","entity_type":"gene"},{"created":"2019-12-19T11:56:17.652642+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TASP1 as Green List (high evidence)","entity_name":"TASP1","entity_type":"gene"},{"created":"2019-12-19T11:56:17.646006+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tasp1 has been classified as Green List (High Evidence).","entity_name":"TASP1","entity_type":"gene"},{"created":"2019-12-19T11:56:05.368258+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1426","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TASP1 was added\ngene: TASP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TASP1 were set to 31209944; 31350873\nPhenotypes for gene: TASP1 were set to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities\nReview for gene: TASP1 was set to GREEN\nAdded comment: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another infant with a de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present. \nSources: Literature","entity_name":"TASP1","entity_type":"gene"},{"created":"2019-12-19T11:44:29.756780+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.365","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FST was added\ngene: FST was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: FST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FST were set to 31215115\nPhenotypes for gene: FST were set to Cleft lip and palate\nReview for gene: FST was set to RED\nAdded comment: Single family reported. \nSources: Literature","entity_name":"FST","entity_type":"gene"},{"created":"2019-12-19T11:36:32.334422+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.364","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDF11 as ready","entity_name":"GDF11","entity_type":"gene"},{"created":"2019-12-19T11:36:32.327597+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.364","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf11 has been classified as Amber List (Moderate Evidence).","entity_name":"GDF11","entity_type":"gene"},{"created":"2019-12-19T11:36:22.796370+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.364","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GDF11 as Amber List (moderate evidence)","entity_name":"GDF11","entity_type":"gene"},{"created":"2019-12-19T11:36:22.787723+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.364","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf11 has been classified as Amber List (Moderate Evidence).","entity_name":"GDF11","entity_type":"gene"},{"created":"2019-12-19T11:36:03.526041+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.363","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GDF11 was added\ngene: GDF11 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GDF11 were set to 31215115\nPhenotypes for gene: GDF11 were set to Cleft lip and palate\nReview for gene: GDF11 was set to AMBER\nAdded comment: Cleft lip and palate, and rib and vertebral hypersegmentation in a single family. Mouse model. \nSources: Literature","entity_name":"GDF11","entity_type":"gene"},{"created":"2019-12-19T11:06:39.379366+11:00","panel_name":"Macrocephaly/Megalencephaly_VCGS","panel_id":135,"panel_version":"0.7","user_name":"Tiong Tan","item_type":"entity","text":"Classified gene: MLC1 as Green List (high evidence)","entity_name":"MLC1","entity_type":"gene"},{"created":"2019-12-19T11:06:39.371744+11:00","panel_name":"Macrocephaly/Megalencephaly_VCGS","panel_id":135,"panel_version":"0.7","user_name":"Tiong Tan","item_type":"entity","text":"Gene: mlc1 has been classified as Green List (High Evidence).","entity_name":"MLC1","entity_type":"gene"},{"created":"2019-12-19T10:41:10.931885+11:00","panel_name":"Macrocephaly/Megalencephaly_VCGS","panel_id":135,"panel_version":"0.6","user_name":"Tiong Tan","item_type":"entity","text":"Marked gene: MLC1 as ready","entity_name":"MLC1","entity_type":"gene"},{"created":"2019-12-19T10:41:10.924824+11:00","panel_name":"Macrocephaly/Megalencephaly_VCGS","panel_id":135,"panel_version":"0.6","user_name":"Tiong Tan","item_type":"entity","text":"Gene: mlc1 has been classified as Red List (Low Evidence).","entity_name":"MLC1","entity_type":"gene"},{"created":"2019-12-19T10:40:42.841000+11:00","panel_name":"Macrocephaly/Megalencephaly_VCGS","panel_id":135,"panel_version":"0.6","user_name":"Tiong Tan","item_type":"entity","text":"reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11254442, 18757878, 16652334; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MLC1","entity_type":"gene"},{"created":"2019-12-19T10:19:09.148357+11:00","panel_name":"Macrocephaly/Megalencephaly_VCGS","panel_id":135,"panel_version":"0.5","user_name":"Tiong Tan","item_type":"entity","text":"gene: MLC1 was added\ngene: MLC1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Literature\nMode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MLC1 were set to 11254442; 18757878; 16652334\nPhenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004\nPenetrance for gene: MLC1 were set to Complete","entity_name":"MLC1","entity_type":"gene"},{"created":"2019-12-19T09:59:43.671094+11:00","panel_name":"Macrocephaly/Megalencephaly_VCGS","panel_id":135,"panel_version":"0.4","user_name":"Tiong Tan","item_type":"entity","text":"Marked gene: HERC1 as ready","entity_name":"HERC1","entity_type":"gene"},{"created":"2019-12-19T09:59:43.663616+11:00","panel_name":"Macrocephaly/Megalencephaly_VCGS","panel_id":135,"panel_version":"0.4","user_name":"Tiong Tan","item_type":"entity","text":"Gene: herc1 has been classified as Green List (High Evidence).","entity_name":"HERC1","entity_type":"gene"},{"created":"2019-12-19T09:59:26.346720+11:00","panel_name":"Macrocephaly/Megalencephaly_VCGS","panel_id":135,"panel_version":"0.4","user_name":"Tiong Tan","item_type":"entity","text":"Classified gene: HERC1 as Green List (high evidence)","entity_name":"HERC1","entity_type":"gene"},{"created":"2019-12-19T09:59:26.339544+11:00","panel_name":"Macrocephaly/Megalencephaly_VCGS","panel_id":135,"panel_version":"0.4","user_name":"Tiong Tan","item_type":"entity","text":"Gene: herc1 has been classified as Green List (High Evidence).","entity_name":"HERC1","entity_type":"gene"},{"created":"2019-12-19T09:58:22.103958+11:00","panel_name":"Macrocephaly/Megalencephaly_VCGS","panel_id":135,"panel_version":"0.3","user_name":"Tiong Tan","item_type":"entity","text":"gene: HERC1 was added\ngene: HERC1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Literature\nMode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HERC1 were set to 27108999; 26153217; 26138117\nPhenotypes for gene: HERC1 were set to MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION OMIM#617011\nPenetrance for gene: HERC1 were set to Complete\nReview for gene: HERC1 was set to GREEN\nAdded comment: Sources: Literature","entity_name":"HERC1","entity_type":"gene"},{"created":"2019-12-18T18:37:12.487714+11:00","panel_name":"Disorders of Sex Differentiation_VCGS","panel_id":99,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PBX1 as ready","entity_name":"PBX1","entity_type":"gene"},{"created":"2019-12-18T18:37:12.481023+11:00","panel_name":"Disorders of Sex Differentiation_VCGS","panel_id":99,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pbx1 has been classified as Amber List (Moderate Evidence).","entity_name":"PBX1","entity_type":"gene"},{"created":"2019-12-18T18:37:07.961327+11:00","panel_name":"Disorders of Sex Differentiation_VCGS","panel_id":99,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PBX1 as Amber List (moderate evidence)","entity_name":"PBX1","entity_type":"gene"},{"created":"2019-12-18T18:37:07.953142+11:00","panel_name":"Disorders of Sex Differentiation_VCGS","panel_id":99,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pbx1 has been classified as Amber List (Moderate Evidence).","entity_name":"PBX1","entity_type":"gene"},{"created":"2019-12-18T18:36:38.526886+11:00","panel_name":"Disorders of Sex Differentiation_VCGS","panel_id":99,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PBX1 was added\ngene: PBX1 was added to Disorders of Sex Differentiation_VCGS. Sources: Literature\nMode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PBX1 were set to 31302614; 31058389\nPhenotypes for gene: PBX1 were set to 46, XY gonadal dysgenesis\nReview for gene: PBX1 was set to AMBER\nAdded comment: Two individuals reported with mono allelic variants in this gene and 46,XY gonadal dysgenesis. \nSources: Literature","entity_name":"PBX1","entity_type":"gene"},{"created":"2019-12-18T18:28:38.254768+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNA2 as ready","entity_name":"DNA2","entity_type":"gene"},{"created":"2019-12-18T18:28:38.247118+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dna2 has been classified as Green List (High Evidence).","entity_name":"DNA2","entity_type":"gene"},{"created":"2019-12-18T18:28:30.424528+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNA2 were changed from  to Seckel syndrome 8, MIM#615807","entity_name":"DNA2","entity_type":"gene"},{"created":"2019-12-18T18:27:57.730921+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNA2 were set to ","entity_name":"DNA2","entity_type":"gene"},{"created":"2019-12-18T18:27:26.512620+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNA2","entity_type":"gene"},{"created":"2019-12-18T18:26:54.199852+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24389050, 31045292; Phenotypes: Seckel syndrome 8, MIM#615807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNA2","entity_type":"gene"},{"created":"2019-12-18T14:50:13.439961+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1425","user_name":"Chris Richmond","item_type":"entity","text":"reviewed gene: CACNA1G: Rating: ; Mode of pathogenicity: Other; Publications: 29878067, 31836334; Phenotypes: Spinocerebellar ataxia 42 [616795], Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [618087], Infantile-Onset Syndromic Cerebellar Ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"CACNA1G","entity_type":"gene"},{"created":"2019-12-18T12:52:39.431348+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1425","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOST as ready","entity_name":"SOST","entity_type":"gene"},{"created":"2019-12-18T12:52:39.424632+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1425","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sost has been classified as Red List (Low Evidence).","entity_name":"SOST","entity_type":"gene"},{"created":"2019-12-18T12:52:34.835880+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1425","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SOST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SOST","entity_type":"gene"},{"created":"2019-12-18T12:19:46.882296+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1424","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HNRNPR as ready","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2019-12-18T12:19:46.875547+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1424","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnrnpr has been classified as Green List (High Evidence).","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2019-12-18T12:19:35.588903+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1424","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HNRNPR as Green List (high evidence)","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2019-12-18T12:19:35.581960+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1424","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnrnpr has been classified as Green List (High Evidence).","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2019-12-18T12:19:05.401882+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1423","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HNRNPR was added\ngene: HNRNPR was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPR were set to 31079900\nPhenotypes for gene: HNRNPR were set to Intellectual disability; seizures; dysmorphic features\nReview for gene: HNRNPR was set to GREEN\nAdded comment: Four unrelated families with heterozygous variants in this gene and a neurodevelopmental phenotype. \nSources: Literature","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2019-12-18T12:09:40.551188+11:00","panel_name":"Hereditary Haemorrhagic Telangiectasia_RMH","panel_id":260,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"panel","text":"Panel status changed from internal to public","entity_name":null,"entity_type":null},{"created":"2019-12-18T12:06:26.122570+11:00","panel_name":"Hereditary Haemorrhagic Telangiectasia_RMH","panel_id":260,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SMAD4 was added\ngene: SMAD4 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050","entity_name":"SMAD4","entity_type":"gene"},{"created":"2019-12-18T12:06:26.074690+11:00","panel_name":"Hereditary Haemorrhagic Telangiectasia_RMH","panel_id":260,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RASA1 was added\ngene: RASA1 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 608354","entity_name":"RASA1","entity_type":"gene"},{"created":"2019-12-18T12:06:25.989556+11:00","panel_name":"Hereditary Haemorrhagic Telangiectasia_RMH","panel_id":260,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GDF2 was added\ngene: GDF2 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GDF2 were set to Telangiectasia, hereditary hemorrhagic, type 5 615506","entity_name":"GDF2","entity_type":"gene"},{"created":"2019-12-18T12:06:25.939925+11:00","panel_name":"Hereditary Haemorrhagic Telangiectasia_RMH","panel_id":260,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EPHB4 was added\ngene: EPHB4 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation-2","entity_name":"EPHB4","entity_type":"gene"},{"created":"2019-12-18T12:06:25.888916+11:00","panel_name":"Hereditary Haemorrhagic Telangiectasia_RMH","panel_id":260,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ENG was added\ngene: ENG was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, 187300; Gastrointestinal telangiectasia (HP:0002604); Palate telangiectasia (HP:0002707); Lip telangiectasia (HP:0000214); Pulmonary arteriovenous malformation (HP:0006548); Nasal mucosa telangiectasia (HP:0000434); Tongue telangiectasia (HP:0000227); Epistaxis (HP:0000421); Cerebral arteriovenous malformation (HP:0002408); Hepatic arteriovenous malformation (HP:0006574; Spinal arteriovenous malformation (HP:0002390); ); Finger pad telangiectasia (pulp not nail side); Arteriovenous malformation (HP:0100026)","entity_name":"ENG","entity_type":"gene"},{"created":"2019-12-18T12:06:25.836820+11:00","panel_name":"Hereditary Haemorrhagic Telangiectasia_RMH","panel_id":260,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACVRL1 was added\ngene: ACVRL1 was added to Hereditary Haemorrhagic Telangiectasia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACVRL1 were set to telangiectasia; pulmonary arterial hypertension; epistaxis; pulmonary arteriovenous malformation; cerebral pulmonary arteriovenous malformation; hepatic arteriovenous malformation; Telangiectasia, hereditary hemorrhagic, type 2 600376","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2019-12-18T12:06:25.805259+11:00","panel_name":"Hereditary Haemorrhagic Telangiectasia_RMH","panel_id":260,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added panel Hereditary Haemorrhagic Telangiectasia_RMH","entity_name":null,"entity_type":null},{"created":"2019-12-18T11:05:07.238239+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.362","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRDM13 as ready","entity_name":"PRDM13","entity_type":"gene"},{"created":"2019-12-18T11:05:07.231297+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.362","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prdm13 has been classified as Green List (High Evidence).","entity_name":"PRDM13","entity_type":"gene"},{"created":"2019-12-18T11:04:15.909640+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.362","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRDM13 as Green List (high evidence)","entity_name":"PRDM13","entity_type":"gene"},{"created":"2019-12-18T11:04:15.902764+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.362","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prdm13 has been classified as Green List (High Evidence).","entity_name":"PRDM13","entity_type":"gene"},{"created":"2019-12-18T11:03:57.099894+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.361","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRDM13 was added\ngene: PRDM13 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: PRDM13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRDM13 were set to 30710461\nPhenotypes for gene: PRDM13 were set to Retinal dystrophy\nMode of pathogenicity for gene: PRDM13 was set to Other\nReview for gene: PRDM13 was set to GREEN\nAdded comment: 8 individuals from three families reported with UPSTREAM NON-CODING variants in this gene. \nSources: Literature","entity_name":"PRDM13","entity_type":"gene"},{"created":"2019-12-18T10:40:42.829398+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.360","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MICB as ready","entity_name":"MICB","entity_type":"gene"},{"created":"2019-12-18T10:40:42.824744+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.360","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Agree, cannot find evidence for Mendelian gene-disease association.","entity_name":"MICB","entity_type":"gene"},{"created":"2019-12-18T10:40:42.796337+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.360","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: micb has been classified as Red List (Low Evidence).","entity_name":"MICB","entity_type":"gene"},{"created":"2019-12-18T10:40:28.617461+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.360","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MICB as Red List (low evidence)","entity_name":"MICB","entity_type":"gene"},{"created":"2019-12-18T10:40:28.609582+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.360","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: micb has been classified as Red List (Low Evidence).","entity_name":"MICB","entity_type":"gene"},{"created":"2019-12-18T10:29:04.194938+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"panel","text":"Panel status changed from internal to public","entity_name":null,"entity_type":null},{"created":"2019-12-18T10:26:55.398631+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNJ2 was added\ngene: KCNJ2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department\nMode of inheritance for gene: KCNJ2 was set to Unknown","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2019-12-18T10:26:55.344419+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNA1S was added\ngene: CACNA1S was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department\nMode of inheritance for gene: CACNA1S was set to Unknown","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2019-12-18T10:26:55.290423+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNMA1 was added\ngene: KCNMA1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department\nMode of inheritance for gene: KCNMA1 was set to Unknown","entity_name":"KCNMA1","entity_type":"gene"},{"created":"2019-12-18T10:26:55.233122+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN4A was added\ngene: SCN4A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department\nMode of inheritance for gene: SCN4A was set to Unknown","entity_name":"SCN4A","entity_type":"gene"},{"created":"2019-12-18T10:26:54.993348+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPR was added\ngene: SPR was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department\nMode of inheritance for gene: SPR was set to Unknown","entity_name":"SPR","entity_type":"gene"},{"created":"2019-12-18T10:26:54.939237+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC6A5 was added\ngene: SLC6A5 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department\nMode of inheritance for gene: SLC6A5 was set to Unknown","entity_name":"SLC6A5","entity_type":"gene"},{"created":"2019-12-18T10:26:54.885056+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC2A1 was added\ngene: SLC2A1 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department\nMode of inheritance for gene: SLC2A1 was set to Unknown","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2019-12-18T10:26:54.812335+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC1A3 was added\ngene: SLC1A3 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department\nMode of inheritance for gene: SLC1A3 was set to Unknown","entity_name":"SLC1A3","entity_type":"gene"},{"created":"2019-12-18T10:26:54.756104+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN8A was added\ngene: SCN8A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department\nMode of inheritance for gene: SCN8A was set to Unknown","entity_name":"SCN8A","entity_type":"gene"},{"created":"2019-12-18T10:26:54.702840+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN2A was added\ngene: SCN2A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department\nMode of inheritance for gene: SCN2A was set to Unknown","entity_name":"SCN2A","entity_type":"gene"},{"created":"2019-12-18T10:26:54.647999+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN1A was added\ngene: SCN1A was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department\nMode of inheritance for gene: SCN1A was set to Unknown","entity_name":"SCN1A","entity_type":"gene"},{"created":"2019-12-18T10:26:54.592847+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRRT2 was added\ngene: PRRT2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department\nMode of inheritance for gene: PRRT2 was set to Unknown","entity_name":"PRRT2","entity_type":"gene"},{"created":"2019-12-18T10:26:54.539402+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PNKD was added\ngene: PNKD was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department\nMode of inheritance for gene: PNKD was set to Unknown","entity_name":"PNKD","entity_type":"gene"},{"created":"2019-12-18T10:26:54.485635+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNQ3 was added\ngene: KCNQ3 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department\nMode of inheritance for gene: KCNQ3 was set to Unknown","entity_name":"KCNQ3","entity_type":"gene"},{"created":"2019-12-18T10:26:54.433504+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNQ2 was added\ngene: KCNQ2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department\nMode of inheritance for gene: KCNQ2 was set to Unknown","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2019-12-18T10:26:54.380604+11:00","panel_name":"Paroxysmal dyskinesia_VCGS","panel_id":259,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNA2 was added\ngene: KCNA2 was added to Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department\nMode of inheritance for gene: KCNA2 was set to Unknown","entity_name":"KCNA2","entity_type":"gene"}]}