{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1613","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1611","results":[{"created":"2020-09-03T12:02:07.398916+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.378","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGH as Amber List (moderate evidence)","entity_name":"PIGH","entity_type":"gene"},{"created":"2020-09-03T12:02:07.389807+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.378","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigh has been classified as Amber List (Moderate Evidence).","entity_name":"PIGH","entity_type":"gene"},{"created":"2020-09-03T12:01:40.233738+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.377","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGH: Rating: AMBER; Mode of pathogenicity: None; Publications: 29573052; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGH","entity_type":"gene"},{"created":"2020-09-03T11:55:55.777309+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.377","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDHA1 as ready","entity_name":"PDHA1","entity_type":"gene"},{"created":"2020-09-03T11:55:55.764119+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.377","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":"2020-09-03T11:55:51.221747+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.377","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDHA1 as Green List (high evidence)","entity_name":"PDHA1","entity_type":"gene"},{"created":"2020-09-03T11:55:51.211862+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.377","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":"2020-09-03T11:55:22.275531+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.376","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDHA1 was added\ngene: PDHA1 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: PDHA1 were set to 8032855\nPhenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency, MIM#\t312170\nReview for gene: PDHA1 was set to GREEN\nAdded comment: Well established gene-disease association. Variable phenotype, but microcephaly is a feature. \nSources: Expert list","entity_name":"PDHA1","entity_type":"gene"},{"created":"2020-09-03T11:47:49.688717+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCYT2 as ready","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:47:49.679621+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcyt2 has been classified as Green List (High Evidence).","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:47:43.399985+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCYT2 were changed from  to Spastic paraplegia 82, autosomal recessive 618770","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:47:10.015608+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PCYT2 were set to ","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:46:41.456724+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PCYT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:46:13.576826+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PCYT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31637422; Phenotypes: Spastic paraplegia 82, autosomal recessive 618770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:45:04.250981+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4145","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCYT2 as ready","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:45:04.239890+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4145","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcyt2 has been classified as Green List (High Evidence).","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:44:57.164926+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4145","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCYT2 were changed from  to Spastic paraplegia 82, autosomal recessive 618770; global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:44:26.286215+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4144","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PCYT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:44:09.027929+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4143","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PCYT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31637422; Phenotypes: Spastic paraplegia 82, autosomal recessive 618770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:43:07.036911+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.375","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCYT2 as ready","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:43:07.023739+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.375","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcyt2 has been classified as Red List (Low Evidence).","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:42:59.758393+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.375","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCYT2 were changed from  to Spastic paraplegia 82, autosomal recessive 618770","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:42:21.789333+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.374","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PCYT2 were set to ","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:41:59.706894+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.373","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PCYT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:41:21.548145+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.372","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCYT2 as Red List (low evidence)","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:41:21.529010+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.372","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcyt2 has been classified as Red List (Low Evidence).","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:40:53.248603+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.371","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PCYT2: Rating: RED; Mode of pathogenicity: None; Publications: 31637422; Phenotypes: Spastic paraplegia 82, autosomal recessive 618770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-09-03T11:35:14.166346+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: TRAPPC2L.","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T11:34:52.964484+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4143","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: TRAPPC2L.","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T11:34:28.588454+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2940","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAPPC2L as ready","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T11:34:28.579526+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2940","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc2l has been classified as Amber List (Moderate Evidence).","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T11:34:23.874552+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2940","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRAPPC2L as Amber List (moderate evidence)","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T11:34:23.866708+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2940","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc2l has been classified as Amber List (Moderate Evidence).","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T11:34:01.821172+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2939","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: TRAPPC2L.","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T11:33:35.557313+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAPPC2L as ready","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T11:33:35.547691+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc2l has been classified as Red List (Low Evidence).","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T11:33:26.978013+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRAPPC2L was added\ngene: TRAPPC2L was added to Rhabdomyolysis RMH. Sources: Literature\nMode of inheritance for gene: TRAPPC2L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC2L were set to 30120216; 32843486\nPhenotypes for gene: TRAPPC2L were set to Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331\nReview for gene: TRAPPC2L was set to RED\nAdded comment: Total of three families, but two share a founder variant, and there are some disparities between the clinical presentations reported in the two publications. Rating Red on this panel as rhabdomyolysis not reported in all families. PMID: 30120216 (2018) - Two unrelated probands with an identical homozygous missense (c.109G>T, p.Asp37Tyr) variant in TRAPPC2L. Both individuals presented neurodevelopmental delay, febrile illness-induced encephalopathy, and episodic rhabdomyolysis, followed by developmental arrest, seizures and tetraplegia. The variant segregated with the phenotype in each family, and haplotype analysis suggested a founder effect. The mutant protein was expressed in patient fibroblasts, but displayed membrane trafficking delays. Studies in yeast showed that the variant impaired interaction with TRAPPC10, and increased levels of the active RAB11. PMID: 32843486 (2020) - In an Ashkenazi Jewish family with three affected sibs with GDD/ID, WGS revealed a segregating homozygous missense variant (c.5G>C, p.Ala2Gly) in the TRAPPC2L gene. No seizures, brain MRI abnormalities, or illness provoked regression were documented in this family. Comparable to the previous study, the variant resulted in delayed ER-to-Golgi trafficking and elevated levels of active RAB11. Studies using yeast and in vitro binding, showed that the variant disrupted interaction with another core TRAPP protein, TRAPPC6a. \nSources: Literature","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T11:32:20.210241+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2939","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRAPPC2L was added\ngene: TRAPPC2L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TRAPPC2L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC2L were set to 30120216; 32843486\nPhenotypes for gene: TRAPPC2L were set to Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331\nReview for gene: TRAPPC2L was set to AMBER\nAdded comment: Total of three families, but two share a founder variant, and there are some disparities between the clinical presentations reported in the two publications. Rating Amber as additional cases required to delineate the genotype-phenotype relationship. PMID: 30120216 (2018) - Two unrelated probands with an identical homozygous missense (c.109G>T, p.Asp37Tyr) variant in TRAPPC2L. Both individuals presented neurodevelopmental delay, febrile illness-induced encephalopathy, and episodic rhabdomyolysis, followed by developmental arrest, seizures and tetraplegia. The variant segregated with the phenotype in each family, and haplotype analysis suggested a founder effect. The mutant protein was expressed in patient fibroblasts, but displayed membrane trafficking delays. Studies in yeast showed that the variant impaired interaction with TRAPPC10, and increased levels of the active RAB11. PMID: 32843486 (2020) - In an Ashkenazi Jewish family with three affected sibs with GDD/ID, WGS revealed a segregating homozygous missense variant (c.5G>C, p.Ala2Gly) in the TRAPPC2L gene. No seizures, brain MRI abnormalities, or illness provoked regression were documented in this family. Comparable to the previous study, the variant resulted in delayed ER-to-Golgi trafficking and elevated levels of active RAB11. Studies using yeast and in vitro binding, showed that the variant disrupted interaction with another core TRAPP protein, TRAPPC6a. \nSources: Literature","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T10:00:11.105090+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.831","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAPPC2L as ready","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T10:00:11.092863+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.831","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc2l has been classified as Red List (Low Evidence).","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T10:00:00.380665+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.831","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Total of three families, but two share a founder variant, and there are some disparities between the clinical presentations reported in the two publications. Rating Amber as additional cases required to delineate the genotype-phenotype relationship. PMID: 30120216 (2018) - Two unrelated probands with an identical homozygous missense (c.109G>T, p.Asp37Tyr) variant in TRAPPC2L. Both individuals presented neurodevelopmental delay, febrile illness-induced encephalopathy, and episodic rhabdomyolysis, followed by developmental arrest, seizures and tetraplegia. The variant segregated with the phenotype in each family, and haplotype analysis suggested a founder effect. The mutant protein was expressed in patient fibroblasts, but displayed membrane trafficking delays. Studies in yeast showed that the variant impaired interaction with TRAPPC10, and increased levels of the active RAB11. PMID: 32843486 (2020) - In an Ashkenazi Jewish family with three affected sibs with GDD/ID, WGS revealed a segregating homozygous missense variant (c.5G>C, p.Ala2Gly) in the TRAPPC2L gene. No seizures, brain MRI abnormalities, or illness provoked regression were documented in this family. Comparable to the previous study, the variant resulted in delayed ER-to-Golgi trafficking and elevated levels of active RAB11. Studies using yeast and in vitro binding, showed that the variant disrupted interaction with another core TRAPP protein, TRAPPC6a. \nSources: Literature; to: Total of three families, but two share a founder variant, and there are some disparities between the clinical presentations reported in the two publications. Rating Red on this panel as seizures not reported in all families. PMID: 30120216 (2018) - Two unrelated probands with an identical homozygous missense (c.109G>T, p.Asp37Tyr) variant in TRAPPC2L. Both individuals presented neurodevelopmental delay, febrile illness-induced encephalopathy, and episodic rhabdomyolysis, followed by developmental arrest, seizures and tetraplegia. The variant segregated with the phenotype in each family, and haplotype analysis suggested a founder effect. The mutant protein was expressed in patient fibroblasts, but displayed membrane trafficking delays. Studies in yeast showed that the variant impaired interaction with TRAPPC10, and increased levels of the active RAB11. PMID: 32843486 (2020) - In an Ashkenazi Jewish family with three affected sibs with GDD/ID, WGS revealed a segregating homozygous missense variant (c.5G>C, p.Ala2Gly) in the TRAPPC2L gene. No seizures, brain MRI abnormalities, or illness provoked regression were documented in this family. Comparable to the previous study, the variant resulted in delayed ER-to-Golgi trafficking and elevated levels of active RAB11. Studies using yeast and in vitro binding, showed that the variant disrupted interaction with another core TRAPP protein, TRAPPC6a. \r\nSources: Literature","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T09:59:26.313782+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.831","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TRAPPC2L: Changed rating: RED","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T09:59:16.883849+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.831","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRAPPC2L was added\ngene: TRAPPC2L was added to Genetic Epilepsy. Sources: Literature\nfounder tags were added to gene: TRAPPC2L.\nMode of inheritance for gene: TRAPPC2L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC2L were set to 30120216; 32843486\nPhenotypes for gene: TRAPPC2L were set to Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331\nReview for gene: TRAPPC2L was set to AMBER\nAdded comment: Total of three families, but two share a founder variant, and there are some disparities between the clinical presentations reported in the two publications. Rating Amber as additional cases required to delineate the genotype-phenotype relationship. PMID: 30120216 (2018) - Two unrelated probands with an identical homozygous missense (c.109G>T, p.Asp37Tyr) variant in TRAPPC2L. Both individuals presented neurodevelopmental delay, febrile illness-induced encephalopathy, and episodic rhabdomyolysis, followed by developmental arrest, seizures and tetraplegia. The variant segregated with the phenotype in each family, and haplotype analysis suggested a founder effect. The mutant protein was expressed in patient fibroblasts, but displayed membrane trafficking delays. Studies in yeast showed that the variant impaired interaction with TRAPPC10, and increased levels of the active RAB11. PMID: 32843486 (2020) - In an Ashkenazi Jewish family with three affected sibs with GDD/ID, WGS revealed a segregating homozygous missense variant (c.5G>C, p.Ala2Gly) in the TRAPPC2L gene. No seizures, brain MRI abnormalities, or illness provoked regression were documented in this family. Comparable to the previous study, the variant resulted in delayed ER-to-Golgi trafficking and elevated levels of active RAB11. Studies using yeast and in vitro binding, showed that the variant disrupted interaction with another core TRAPP protein, TRAPPC6a. \nSources: Literature","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T09:57:15.802831+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4143","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAPPC2L as ready","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T09:57:15.789961+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4143","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc2l has been classified as Amber List (Moderate Evidence).","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T09:57:05.749341+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4143","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRAPPC2L as Amber List (moderate evidence)","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T09:57:05.740282+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4143","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc2l has been classified as Amber List (Moderate Evidence).","entity_name":"TRAPPC2L","entity_type":"gene"},{"created":"2020-09-03T09:55:42.144537+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TIMM8A as ready","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:55:42.133605+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: timm8a has been classified as Green List (High Evidence).","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:55:39.105903+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TIMM8A were changed from Deafness-Dystonia-Optic Neuronopathy Syndrome to Deafness-Dystonia-Optic Neuronopathy Syndrome; Mohr-Tranebjaerg syndrome, MIM# 304700","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:55:28.610478+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TIMM8A were set to ","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:55:19.099199+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TIMM8A was changed from  to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:55:09.204753+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11803487, 11405816, 32820032; Phenotypes: Mohr-Tranebjaerg syndrome, MIM# 304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:54:11.408250+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4142","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TIMM8A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:53:45.506545+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TIMM8A as ready","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:53:45.496880+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: timm8a has been classified as Green List (High Evidence).","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:53:42.735088+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TIMM8A were changed from  to Mohr-Tranebjaerg syndrome, MIM# 304700","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:53:16.743171+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.385","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TIMM8A were set to ","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:53:00.664606+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TIMM8A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:52:29.076931+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.383","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11803487, 11405816, 32820032; Phenotypes: Mohr-Tranebjaerg syndrome, MIM# 304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:50:52.789640+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4141","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TIMM8A as ready","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:50:52.780427+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4141","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: timm8a has been classified as Green List (High Evidence).","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:50:45.402609+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4141","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TIMM8A were changed from  to Mohr-Tranebjaerg syndrome, MIM# 304700","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:50:24.373561+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4140","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TIMM8A were set to ","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:49:49.687878+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4139","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11803487, 11405816; Phenotypes: Mohr-Tranebjaerg syndrome, MIM# 304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-09-03T09:44:15.758961+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOGARAM1 as ready","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2020-09-03T09:44:15.749839+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: togaram1 has been classified as Red List (Low Evidence).","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2020-09-03T09:44:08.903133+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TOGARAM1 was added\ngene: TOGARAM1 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOGARAM1 were set to 32747439\nPhenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus\nReview for gene: TOGARAM1 was set to RED\nAdded comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene. Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding. \nSources: Literature","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2020-09-03T09:43:41.065635+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOGARAM1 as ready","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2020-09-03T09:43:41.046505+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: togaram1 has been classified as Red List (Low Evidence).","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2020-09-03T09:42:58.990671+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TOGARAM1 was added\ngene: TOGARAM1 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOGARAM1 were set to 32747439\nPhenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus\nReview for gene: TOGARAM1 was set to RED\nAdded comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene. Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding. \nSources: Literature","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2020-09-03T09:41:32.269520+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOGARAM1 as ready","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2020-09-03T09:41:32.261117+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: togaram1 has been classified as Red List (Low Evidence).","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2020-09-03T09:41:10.777878+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.371","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOGARAM1 as ready","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2020-09-03T09:41:10.766590+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.371","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: togaram1 has been classified as Red List (Low Evidence).","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2020-09-03T09:41:06.797789+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TOGARAM1 was added\ngene: TOGARAM1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOGARAM1 were set to 32747439\nPhenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus\nReview for gene: TOGARAM1 was set to RED\nAdded comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene. Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding. \nSources: Literature","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2020-09-03T09:40:58.600442+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4139","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOGARAM1 as ready","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2020-09-03T09:40:58.584442+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4139","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: togaram1 has been classified as Red List (Low Evidence).","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2020-09-03T09:40:41.567571+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.371","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TOGARAM1 was added\ngene: TOGARAM1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOGARAM1 were set to 32747439\nPhenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus\nReview for gene: TOGARAM1 was set to RED\nAdded comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene. Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding. \nSources: Literature","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2020-09-03T09:25:16.394164+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4139","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TOGARAM1 as Red List (low evidence)","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2020-09-03T09:25:16.383639+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4139","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: togaram1 has been classified as Red List (Low Evidence).","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2020-09-03T07:34:11.361488+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2938","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPP6 as ready","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:34:11.351166+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2938","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpp6 has been classified as Amber List (Moderate Evidence).","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:34:08.003578+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2938","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPP6 were changed from  to Mental retardation, autosomal dominant 33 (MIM#616311)","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:33:42.779862+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2937","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPP6 were set to ","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:33:18.479626+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2936","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:32:54.424570+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2935","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPP6 as Amber List (moderate evidence)","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:32:54.413288+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2935","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpp6 has been classified as Amber List (Moderate Evidence).","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:32:22.558505+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2934","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPP6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 33 (MIM#616311); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:31:16.603398+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4138","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPP6 as ready","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:31:16.593135+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpp6 has been classified as Amber List (Moderate Evidence).","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:31:10.360205+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4138","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPP6 were changed from  to Mental retardation, autosomal dominant 33 (MIM#616311)","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:30:52.259640+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4137","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPP6 were set to ","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:30:35.054894+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4136","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:30:18.788853+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4135","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPP6 as Amber List (moderate evidence)","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:30:18.779766+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpp6 has been classified as Amber List (Moderate Evidence).","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:30:02.825058+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4134","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: DPP6.","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:29:51.700433+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4134","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPP6: Rating: AMBER; Mode of pathogenicity: None; Publications: 23832105; Phenotypes: Mental retardation, autosomal dominant 33 (MIM#616311); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:19:39.486527+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.370","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Comment when marking as ready: Single LP variant in ClinVar but reported phenotype is schizophrenia. Original study dates to 2013.; to: Comment when marking as ready: Single LP variant in ClinVar but reported phenotype is schizophrenia. Original study dates to 2013. Association studies with dementia, and suggested role in tardive dyskinesia.","entity_name":"DPP6","entity_type":"gene"},{"created":"2020-09-03T07:17:16.732026+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.370","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPP6 as ready","entity_name":"DPP6","entity_type":"gene"}]}