{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1825","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1823","results":[{"created":"2020-04-21T17:12:40.779805+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: B4GAT1 were set to ","entity_name":"B4GAT1","entity_type":"gene"},{"created":"2020-04-21T17:12:17.553852+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"B4GAT1","entity_type":"gene"},{"created":"2020-04-21T17:11:51.341466+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: B4GAT1 as Amber List (moderate evidence)","entity_name":"B4GAT1","entity_type":"gene"},{"created":"2020-04-21T17:11:51.332148+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b4gat1 has been classified as Amber List (Moderate Evidence).","entity_name":"B4GAT1","entity_type":"gene"},{"created":"2020-04-21T17:07:44.286598+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRAF as ready","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-04-21T17:07:44.274468+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: braf has been classified as Amber List (Moderate Evidence).","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-04-21T17:07:35.246413+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BRAF were changed from  to RASopathies; Focal cortical dysplasia","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-04-21T17:06:52.367026+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BRAF were set to ","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-04-21T17:06:06.182731+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-04-21T17:04:36.620813+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BRAF as Amber List (moderate evidence)","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-04-21T17:04:36.607106+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: braf has been classified as Amber List (Moderate Evidence).","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-04-21T17:04:09.392316+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Tag somatic tag was added to gene: BRAF.","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-04-21T17:03:59.312020+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: None; Publications: 25356392; Phenotypes: Focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-04-21T16:52:36.233637+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2557","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSRC1 as Green List (high evidence)","entity_name":"RSRC1","entity_type":"gene"},{"created":"2020-04-21T16:52:36.224932+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2557","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsrc1 has been classified as Green List (High Evidence).","entity_name":"RSRC1","entity_type":"gene"},{"created":"2020-04-21T16:19:55.486815+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.3","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18039946, 18039235; Phenotypes: RASopathies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-04-21T14:27:37.185878+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2556","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Five individuals from two Ashkenazi Jewish families with same homozygous missense variant, and another family ascertained through a large microcephaly cohort, also with SCA. \nSources: Literature; to: Four Ashkenazi Jewish families with same homozygous missense variant, and another family ascertained through a large microcephaly cohort, also with SCA. A carrier rate of 0.8%, but no THG1L V55A homozygotes, was found in a cohort of 3,232 unrelated Ashkenazi Jewish individuals, and no homozygotes found in Exac or gnomAD.\r\nSources: Literature","entity_name":"THG1L","entity_type":"gene"},{"created":"2020-04-21T14:27:07.101797+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2556","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: THG1L: Changed rating: GREEN; Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800","entity_name":"THG1L","entity_type":"gene"},{"created":"2020-04-21T14:26:49.629781+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2556","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: THG1L as ready","entity_name":"THG1L","entity_type":"gene"},{"created":"2020-04-21T14:26:49.617365+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2556","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thg1l has been classified as Green List (High Evidence).","entity_name":"THG1L","entity_type":"gene"},{"created":"2020-04-21T14:26:40.009026+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2556","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: THG1L as Green List (high evidence)","entity_name":"THG1L","entity_type":"gene"},{"created":"2020-04-21T14:26:39.997439+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2556","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thg1l has been classified as Green List (High Evidence).","entity_name":"THG1L","entity_type":"gene"},{"created":"2020-04-21T14:25:29.230466+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2555","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: THG1L as Amber List (moderate evidence)","entity_name":"THG1L","entity_type":"gene"},{"created":"2020-04-21T14:25:29.218129+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2555","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thg1l has been classified as Amber List (Moderate Evidence).","entity_name":"THG1L","entity_type":"gene"},{"created":"2020-04-21T14:25:10.231423+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2554","user_name":"Zornitza Stark","item_type":"entity","text":"gene: THG1L was added\ngene: THG1L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: THG1L were set to 27307223; 31168944; 30214071\nPhenotypes for gene: THG1L were set to Spinocerebellar ataxia, autosomal recessive 28, MIM#\t618800\nReview for gene: THG1L was set to AMBER\nAdded comment: Five individuals from two Ashkenazi Jewish families with same homozygous missense variant, and another family ascertained through a large microcephaly cohort, also with SCA. \nSources: Literature","entity_name":"THG1L","entity_type":"gene"},{"created":"2020-04-21T14:16:51.296559+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2553","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRPV1 as ready","entity_name":"TRPV1","entity_type":"gene"},{"created":"2020-04-21T14:16:51.287743+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2553","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpv1 has been classified as Red List (Low Evidence).","entity_name":"TRPV1","entity_type":"gene"},{"created":"2020-04-21T14:16:39.747653+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2553","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRPV1 was added\ngene: TRPV1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TRPV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPV1 were set to 29930394\nPhenotypes for gene: TRPV1 were set to Susceptibility to malignant hyperthermia\nReview for gene: TRPV1 was set to RED\nAdded comment: Two individuals reported with rare/novel missense variants in this gene, some functional data. \nSources: Literature","entity_name":"TRPV1","entity_type":"gene"},{"created":"2020-04-21T14:11:15.995880+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2552","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZP2 as ready","entity_name":"ZP2","entity_type":"gene"},{"created":"2020-04-21T14:11:15.987292+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2552","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zp2 has been classified as Green List (High Evidence).","entity_name":"ZP2","entity_type":"gene"},{"created":"2020-04-21T14:11:06.155247+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2552","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZP2 as Green List (high evidence)","entity_name":"ZP2","entity_type":"gene"},{"created":"2020-04-21T14:11:06.143074+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2552","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zp2 has been classified as Green List (High Evidence).","entity_name":"ZP2","entity_type":"gene"},{"created":"2020-04-21T14:10:46.736890+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2551","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZP2 was added\ngene: ZP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZP2 were set to 30810869; 29895852\nPhenotypes for gene: ZP2 were set to Female infertility\nReview for gene: ZP2 was set to GREEN\nAdded comment: Three unrelated individuals reported with bi-allelic variants in this gene and thin zona pellucida. \nSources: Literature","entity_name":"ZP2","entity_type":"gene"},{"created":"2020-04-21T13:55:08.834423+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2550","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RSRC1: Added comment: 17 additional individuals reported.; Changed rating: GREEN; Changed publications: 28640246, 29522154, 32227164; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 70, MIM# 618402","entity_name":"RSRC1","entity_type":"gene"},{"created":"2020-04-21T13:54:57.884986+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2579","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSRC1 as Green List (high evidence)","entity_name":"RSRC1","entity_type":"gene"},{"created":"2020-04-21T13:54:57.872713+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2579","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsrc1 has been classified as Green List (High Evidence).","entity_name":"RSRC1","entity_type":"gene"},{"created":"2020-04-21T13:54:19.870027+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2578","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RSRC1: Added comment: 2020: 17 additional individuals reported.; Changed rating: GREEN; Changed publications: 28640246, 29522154, 32227164; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 70, MIM# 618402","entity_name":"RSRC1","entity_type":"gene"},{"created":"2020-04-21T13:52:49.010054+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.678","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GAD1 as ready","entity_name":"GAD1","entity_type":"gene"},{"created":"2020-04-21T13:52:48.997444+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.678","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gad1 has been classified as Green List (High Evidence).","entity_name":"GAD1","entity_type":"gene"},{"created":"2020-04-21T13:52:09.054949+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.678","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GAD1 as Green List (high evidence)","entity_name":"GAD1","entity_type":"gene"},{"created":"2020-04-21T13:52:09.044952+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.678","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gad1 has been classified as Green List (High Evidence).","entity_name":"GAD1","entity_type":"gene"},{"created":"2020-04-21T13:51:26.555673+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2550","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GAD1 as Green List (high evidence)","entity_name":"GAD1","entity_type":"gene"},{"created":"2020-04-21T13:51:26.542096+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2550","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gad1 has been classified as Green List (High Evidence).","entity_name":"GAD1","entity_type":"gene"},{"created":"2020-04-21T13:51:18.924549+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.677","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GAD1 was added\ngene: GAD1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GAD1 were set to 32282878\nPhenotypes for gene: GAD1 were set to Developmental and epileptic encephalopathy\nReview for gene: GAD1 was set to GREEN\nAdded comment: 2020: 11 individuals from 6 consanguineous families reported with bi-allelic LOF variant and a developmental/epileptic encephalopathy. Seizure onset occurred in the first 2 months of life in all. All 10 individuals, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight individuals had joint contractures and/or pes equinovarus. Seven presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four individuals died before 4 years of age. \nSources: Literature","entity_name":"GAD1","entity_type":"gene"},{"created":"2020-04-21T13:51:07.613254+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2549","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single family reported with bi-allelic variants. Association studies linking with neuropsychiatric issues.; to: Single family reported with bi-allelic variants and CP phenotype. Association studies linking with neuropsychiatric issues.","entity_name":"GAD1","entity_type":"gene"},{"created":"2020-04-21T13:50:50.349112+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2549","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GAD1: Added comment: 2020: 11 individuals from 6 consanguineous families reported with bi-allelic LOF variant and a developmental/epileptic encephalopathy. Seizure onset occurred in the first 2 months of life in all. All 10 individuals, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight individuals had joint contractures and/or pes equinovarus. Seven presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four individuals died before 4 years of age.; Changed rating: GREEN; Changed publications: 15571623, 32282878; Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy","entity_name":"GAD1","entity_type":"gene"},{"created":"2020-04-21T13:50:03.770845+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2578","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GAD1 were set to 15571623","entity_name":"GAD1","entity_type":"gene"},{"created":"2020-04-21T13:48:53.128479+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2577","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513 to Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy","entity_name":"GAD1","entity_type":"gene"},{"created":"2020-04-21T13:48:17.409753+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2576","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GAD1 as Green List (high evidence)","entity_name":"GAD1","entity_type":"gene"},{"created":"2020-04-21T13:48:17.397905+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2576","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gad1 has been classified as Green List (High Evidence).","entity_name":"GAD1","entity_type":"gene"},{"created":"2020-04-21T13:47:42.558341+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2575","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single family reported with bi-allelic variants. Association studies linking with neuropsychiatric issues.; to: Single family reported with bi-allelic variants and CP phenotype. Association studies linking with neuropsychiatric issues.","entity_name":"GAD1","entity_type":"gene"},{"created":"2020-04-21T13:47:27.772879+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2575","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GAD1: Changed rating: GREEN","entity_name":"GAD1","entity_type":"gene"},{"created":"2020-04-21T13:47:19.638326+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2575","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GAD1: Added comment: 2020: 11 individuals from 6 consanguineous families reported with bi-allelic LOF variant and a developmental/epileptic encephalopathy. Seizure onset occurred in the first 2 months of life in all. All 10 individuals, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight individuals had joint contractures and/or pes equinovarus. Seven presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four individuals died before 4 years of age.; Changed publications: 15571623, 32282878; Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy","entity_name":"GAD1","entity_type":"gene"},{"created":"2020-04-21T13:43:15.576265+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.676","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALNT2 as ready","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:43:15.566373+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.676","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galnt2 has been classified as Green List (High Evidence).","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:43:11.028082+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.676","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GALNT2 as Green List (high evidence)","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:43:11.016133+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.676","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galnt2 has been classified as Green List (High Evidence).","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:43:00.947384+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2575","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALNT2 as ready","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:43:00.938211+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2575","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galnt2 has been classified as Green List (High Evidence).","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:42:27.202812+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2575","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GALNT2 as Green List (high evidence)","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:42:27.191032+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2575","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galnt2 has been classified as Green List (High Evidence).","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:42:18.112736+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.675","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALNT2 was added\ngene: GALNT2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALNT2 were set to 32293671\nPhenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation\nReview for gene: GALNT2 was set to GREEN\nAdded comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities. \nSources: Literature","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:41:18.094152+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALNT2 as ready","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:41:18.084712+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galnt2 has been classified as Green List (High Evidence).","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:40:41.043658+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GALNT2 as Green List (high evidence)","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:40:41.033393+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galnt2 has been classified as Green List (High Evidence).","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:40:16.132102+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2574","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALNT2 was added\ngene: GALNT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALNT2 were set to 32293671\nPhenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation\nReview for gene: GALNT2 was set to GREEN\nAdded comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities. \nSources: Literature","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:39:57.406064+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALNT2 was added\ngene: GALNT2 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALNT2 were set to 32293671\nPhenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation\nReview for gene: GALNT2 was set to GREEN\nAdded comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities. \nSources: Literature","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:38:50.233315+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2549","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GALNT2 as Green List (high evidence)","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:38:50.224132+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2549","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galnt2 has been classified as Green List (High Evidence).","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:37:52.700272+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2573","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLPBP as ready","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-04-21T13:37:52.686709+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2573","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plpbp has been classified as Green List (High Evidence).","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-04-21T13:37:20.781649+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2548","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALNT2 was added\ngene: GALNT2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALNT2 were set to 32293671\nPhenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation\nReview for gene: GALNT2 was set to GREEN\nAdded comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities. \nSources: Literature","entity_name":"GALNT2","entity_type":"gene"},{"created":"2020-04-21T13:27:29.917548+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYLD as ready","entity_name":"CYLD","entity_type":"gene"},{"created":"2020-04-21T13:27:29.906722+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyld has been classified as Red List (Low Evidence).","entity_name":"CYLD","entity_type":"gene"},{"created":"2020-04-21T13:27:22.861319+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYLD was added\ngene: CYLD was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: CYLD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CYLD were set to 32185393\nPhenotypes for gene: CYLD were set to Frontotemporal dementia; Amyotrophic lateral sclerosis\nReview for gene: CYLD was set to RED\nAdded comment: Recent report of a missense variant segregating in 1 family with frontotemporal dementia and amyotrophic lateral sclerosis. Functional studies showed that the variant resulted in a gain of ubiquitinase function, opposite from the mechanism causing the well-documented cutaneous phenotypes \nSources: Literature","entity_name":"CYLD","entity_type":"gene"},{"created":"2020-04-21T13:26:08.025605+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2573","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLPBP were changed from  to Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-04-21T13:13:20.378961+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C7orf43 as ready","entity_name":"C7orf43","entity_type":"gene"},{"created":"2020-04-21T13:13:20.373184+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: HGNC approved name: MAP11","entity_name":"C7orf43","entity_type":"gene"},{"created":"2020-04-21T13:13:20.344827+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c7orf43 has been classified as Amber List (Moderate Evidence).","entity_name":"C7orf43","entity_type":"gene"},{"created":"2020-04-21T13:13:09.702111+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C7orf43 as Amber List (moderate evidence)","entity_name":"C7orf43","entity_type":"gene"},{"created":"2020-04-21T13:13:09.693370+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c7orf43 has been classified as Amber List (Moderate Evidence).","entity_name":"C7orf43","entity_type":"gene"},{"created":"2020-04-21T13:12:34.663318+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2547","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C7orf43 as ready","entity_name":"C7orf43","entity_type":"gene"},{"created":"2020-04-21T13:12:34.656949+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2547","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: HGNC approved name: MAP11","entity_name":"C7orf43","entity_type":"gene"},{"created":"2020-04-21T13:12:34.628403+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2547","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c7orf43 has been classified as Amber List (Moderate Evidence).","entity_name":"C7orf43","entity_type":"gene"},{"created":"2020-04-21T13:12:21.521000+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C7orf43 was added\ngene: C7orf43 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C7orf43 were set to 30715179\nPhenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM#\t618351\nReview for gene: C7orf43 was set to AMBER\nAdded comment: Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model. \nSources: Literature","entity_name":"C7orf43","entity_type":"gene"},{"created":"2020-04-21T13:10:44.979443+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2547","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C7orf43 as Amber List (moderate evidence)","entity_name":"C7orf43","entity_type":"gene"},{"created":"2020-04-21T13:10:44.959160+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2547","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c7orf43 has been classified as Amber List (Moderate Evidence).","entity_name":"C7orf43","entity_type":"gene"},{"created":"2020-04-21T13:10:25.502235+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2546","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C7orf43 was added\ngene: C7orf43 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C7orf43 were set to 30715179\nPhenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM#\t618351\nReview for gene: C7orf43 was set to AMBER\nAdded comment: Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model. \nSources: Literature","entity_name":"C7orf43","entity_type":"gene"},{"created":"2020-04-21T13:06:35.565745+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2572","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLPBP were set to ","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-04-21T13:06:02.580665+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2571","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-04-21T13:05:38.141984+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2545","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLPBP were changed from Epilepsy, early-onset, vitamin B6-dependent, 617290 to Epilepsy, early-onset, vitamin B6-dependent, MIM#617290","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-04-21T13:05:23.046354+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2544","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLPBP were set to 29689137; 27912044","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-04-21T13:04:53.143134+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2543","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27912044, 31741821, 30668673; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-04-21T13:04:42.191690+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2570","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27912044, 31741821, 30668673; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-04-21T13:02:46.453401+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.674","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLPBP as ready","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-04-21T13:02:46.440372+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.674","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plpbp has been classified as Green List (High Evidence).","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-04-21T13:02:41.268180+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.674","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLPBP were changed from  to Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-04-21T13:02:16.354458+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.673","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLPBP were set to ","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-04-21T13:01:49.043286+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.672","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLPBP","entity_type":"gene"}]}