{"count":221413,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=574","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=572","results":[{"created":"2023-08-01T16:33:03.101790+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added panel Transplant Co-Morbidity Superpanel","entity_name":null,"entity_type":null},{"created":"2023-08-01T16:13:07.432106+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1049","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: DUSP7 was added\ngene: DUSP7 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: DUSP7 was set to Unknown\nPublications for gene: DUSP7 were set to https://doi.org/10.1155/2023/4348290\nPhenotypes for gene: DUSP7 were set to Acute Myeloid Leukemia (AML)\nReview for gene: DUSP7 was set to RED\nAdded comment: New gene with an association in AML prognosis. \r\n\r\nGao (2023) -  Recruitment from three public AML cohorts - GSE71014, TARGET-AML, and TCGA-AML.\r\nThe study results suggest that with an DUSP7 may affect AML progression in individuals by affecting the recruitment of local immune cells. \nSources: Other","entity_name":"DUSP7","entity_type":"gene"},{"created":"2023-08-01T14:46:18.006859+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.205","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682, 23188110, 3479531, 24198383; Phenotypes: Spastic paraplegia 55 (MIM#615035); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C12orf65","entity_type":"gene"},{"created":"2023-08-01T14:18:10.497552+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1049","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PYROXD2 as Red List (low evidence)","entity_name":"PYROXD2","entity_type":"gene"},{"created":"2023-08-01T14:18:10.487616+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1049","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pyroxd2 has been classified as Red List (Low Evidence).","entity_name":"PYROXD2","entity_type":"gene"},{"created":"2023-08-01T14:17:52.409628+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1048","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: PYROXD2.","entity_name":"PYROXD2","entity_type":"gene"},{"created":"2023-08-01T14:17:39.666342+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1048","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PYROXD2: Added comment: Alternative diagnosis identified in proband, downgrade.; Changed rating: RED","entity_name":"PYROXD2","entity_type":"gene"},{"created":"2023-08-01T14:17:13.978697+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.880","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PYROXD2 as Red List (low evidence)","entity_name":"PYROXD2","entity_type":"gene"},{"created":"2023-08-01T14:17:13.966213+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.880","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pyroxd2 has been classified as Red List (Low Evidence).","entity_name":"PYROXD2","entity_type":"gene"},{"created":"2023-08-01T14:16:39.644405+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.879","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: PYROXD2.","entity_name":"PYROXD2","entity_type":"gene"},{"created":"2023-08-01T14:16:30.489994+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.879","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PYROXD2: Added comment: Alternative diagnosis identified in proband, downgrade.; Changed rating: RED","entity_name":"PYROXD2","entity_type":"gene"},{"created":"2023-08-01T14:11:47.794755+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.205","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ATM: Rating: RED; Mode of pathogenicity: None; Publications: 20301790; Phenotypes: Ataxia-telangiectasia, MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATM","entity_type":"gene"},{"created":"2023-08-01T13:32:28.084066+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.205","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: AP1S1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23423674; Phenotypes: MEDNIK Syndrome (MONDO:0012251, MIM#609313); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP1S1","entity_type":"gene"},{"created":"2023-08-01T12:28:29.046335+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.205","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ABCA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 4165386, 31751110; Phenotypes: Tangier Disease (MONDO:0008783, MIM#205400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCA1","entity_type":"gene"},{"created":"2023-08-01T11:09:40.117182+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.146","user_name":"Luisa Weiss","item_type":"entity","text":"gene: TSC1 was added\ngene: TSC1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TSC1 were set to 29706646; 34788679; 25817843\nPhenotypes for gene: TSC1 were set to Focal cortical dysplasia, type II, somatic MIM#607341; Lymphangioleiomyomatosis MIM#606690; Tuberous sclerosis-1 MIM#191100\nReview for gene: TSC1 was set to AMBER\nAdded comment: Two patients in large cohort studies of children with cryptogenic CP and maternally inherited mutation in TSC1, parents were mildly affected. In addition, one patient with a VUS in TSC1 with cortical and movement abnormalities, but no clinical diagnosis of TS. \nSources: Literature","entity_name":"TSC1","entity_type":"gene"},{"created":"2023-08-01T10:56:40.623717+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.146","user_name":"Luisa Weiss","item_type":"entity","text":"gene: TRAPPC9 was added\ngene: TRAPPC9 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC9 were set to 33528536; 34540776; 36475161\nPhenotypes for gene: TRAPPC9 were set to Intellectual developmental disorder, autosomal recessive MIM#13\t613192\nReview for gene: TRAPPC9 was set to GREEN\nAdded comment: Two larger CP cohort studies with one patient each harboring biallelic TRAPPC9 mutations. No phenotypic information is given. In addition, one case report of a girl with CP and intellectual disability and biallelic TRAPPC9 mutations. \nSources: Literature","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2023-08-01T10:50:07.847875+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.146","user_name":"Luisa Weiss","item_type":"entity","text":"gene: TMX2 was added\ngene: TMX2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMX2 were set to 31735293\nPhenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730\nAdded comment: Vandervore et al. published a larger study of several patients with neurological impariment and biallelic TMX2 mutations. 8 individuals out of 5 families had previously been diagnosed with CP. Most patients had severely impaired development and epilepsy. \nSources: Literature","entity_name":"TMX2","entity_type":"gene"},{"created":"2023-08-01T10:44:40.580760+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.146","user_name":"Luisa Weiss","item_type":"entity","text":"gene: TH was added\ngene: TH was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TH were set to 34788679\nPhenotypes for gene: TH were set to Segawa syndrome, recessive MIM#605407\nReview for gene: TH was set to AMBER\nAdded comment: 2 individual cases in one large Chinese CP cohort study, both with compound heterozygous mutations. \nSources: Literature","entity_name":"TH","entity_type":"gene"},{"created":"2023-08-01T10:39:05.939667+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.146","user_name":"Luisa Weiss","item_type":"entity","text":"gene: TEP1 was added\ngene: TEP1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TEP1 were set to 34543729\nReview for gene: TEP1 was set to GREEN\nAdded comment: Wang et al. screened a large cohort of more than 600 CP patients from China and found several variants in TEP1, 11 of which were LoF, while no LoF variant was found in the control cohort. These children all had spastic CP. Among these 11 children, 6 children had birth asphyxia and neonatal encephalopathy. Compared to the total group with birth asphyxia (71/667), 6 patients with TEP1 LOF mutations had a significantly greater risk of birth asphyxia. They confirmed TEP1 as a risk factor for CP by cytological and animal models. \nSources: Literature","entity_name":"TEP1","entity_type":"gene"},{"created":"2023-08-01T10:29:33.017860+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.146","user_name":"Luisa Weiss","item_type":"entity","text":"gene: TANGO2 was added\ngene: TANGO2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TANGO2 were set to 33528536; 34364746\nPhenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878\nReview for gene: TANGO2 was set to GREEN\nAdded comment: 3 individual patients in two large CP cohort study, both with biallelic larger deletions encompassing TANGO2. Phenotypic information is only given for one patient, this one showed slowly progressive spastic paraplegia and ataxia. \nSources: Literature","entity_name":"TANGO2","entity_type":"gene"},{"created":"2023-08-01T10:22:53.355005+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.146","user_name":"Luisa Weiss","item_type":"entity","text":"gene: SYNGAP1 was added\ngene: SYNGAP1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SYNGAP1 were set to 33528536; 31700678\nPhenotypes for gene: SYNGAP1 were set to Intellectual developmental disorder, autosomal dominant 5 MIM#612621\nReview for gene: SYNGAP1 was set to GREEN\nAdded comment: Moreno de Luca et al. found 3 heterozygous de novo SYNGAP1 mutations in a large CP cohort study. In addition, van Eyk et al. found one non-maternally inherited VUS in a child with CP in a cohort study. \nSources: Literature","entity_name":"SYNGAP1","entity_type":"gene"},{"created":"2023-08-01T10:16:40.563817+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.146","user_name":"Luisa Weiss","item_type":"entity","text":"gene: SYNE1 was added\ngene: SYNE1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SYNE1 were set to 34321325; 34816117\nPhenotypes for gene: SYNE1 were set to Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743\nReview for gene: SYNE1 was set to AMBER\nAdded comment: Two cases each in two larger CP cohort studies, one with ataxic and one with spastic CP, with biallelic SYNE1 mutations. \nSources: Literature","entity_name":"SYNE1","entity_type":"gene"},{"created":"2023-08-01T10:02:50.514016+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.146","user_name":"Luisa Weiss","item_type":"entity","text":"gene: SUOX was added\ngene: SUOX was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUOX were set to 27289259; 34540776\nPhenotypes for gene: SUOX were set to Sulfite oxidase deficiency MIM#272300\nReview for gene: SUOX was set to GREEN\nAdded comment: Zaki et al. presented 3 individual cases in a larger cohort study harboring biallelic SUOX mutations and presenting with spastic quadriparesis, even though no formal CP diagnosis was given. In addition, two additional cases of patients with homozygous mutations in SUOX from a larger cohort study from Iran. \nSources: Literature","entity_name":"SUOX","entity_type":"gene"},{"created":"2023-08-01T09:57:10.310430+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.146","user_name":"Luisa Weiss","item_type":"entity","text":"gene: STAMBP was added\ngene: STAMBP was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STAMBP were set to 33528536; 23542699\nPhenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome MIM#614261\nReview for gene: STAMBP was set to GREEN\nAdded comment: 2 cases in a larger CP cohort study with homozygous missense mutations in STAMBP, no phenotypic information is given. \r\nMcDonnell et al. (23542699) presented a large cohort of previously published and unpublished patients with microcephaly-capillary malformation syndrome, which all had cutaneous abnormalities, developmental delay and epilepsy, but 8 of which presented with spastic quadriparesis. Overlap with CP is possible; however, additional phenotypic features seem to be present in any case. \nSources: Literature","entity_name":"STAMBP","entity_type":"gene"},{"created":"2023-08-01T09:39:01.318590+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.146","user_name":"Luisa Weiss","item_type":"entity","text":"gene: ST3GAL5 was added\ngene: ST3GAL5 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ST3GAL5 were set to 34540776; 30185102; 25131622; 24026681\nPhenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome MIM#609056\nReview for gene: ST3GAL5 was set to GREEN\nAdded comment: Several reports on patients with different forms of CP (dystonic, quadriplegic or spastic) later found to harbor biallelic ST3GAL5 mutations. One patient in a larger CP cohort (34540776) with a homozygous VUS, others with pathogenic mutations. Note that the patients which were presented with photographs all showed cutaneous abnormalities as well. \nSources: Literature","entity_name":"ST3GAL5","entity_type":"gene"},{"created":"2023-08-01T09:24:11.298493+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.146","user_name":"Luisa Weiss","item_type":"entity","text":"reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31066025, 25981959, 31721007; Phenotypes: Spinocerebellar ataxia 5 MIM#600224, Spinocerebellar ataxia, autosomal recessive 14 MIM#615386; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"SPTBN2","entity_type":"gene"},{"created":"2023-08-01T09:23:34.480748+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.146","user_name":"Luisa Weiss","item_type":"entity","text":"Deleted their review","entity_name":"SPTBN2","entity_type":"gene"},{"created":"2023-08-01T09:21:09.593213+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.146","user_name":"Luisa Weiss","item_type":"entity","text":"gene: SPTBN2 was added\ngene: SPTBN2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: SPTBN2 were set to 31066025; 25981959; 31721007\nPhenotypes for gene: SPTBN2 were set to Spinocerebellar ataxia 5 MIM#600224; Spinocerebellar ataxia, autosomal recessive 14 MIM#615386\nAdded comment: 5 patients presented in an overview study with ataxic CP and heterozygous (4/5) or biallelic SPTBN2 (1/5) mutations. In addition, one more case report and another case in a larger CP cohort study, all children presenting with ataxic CP. \r\nNote both heterozygous and biallelic mutations have been reported to cause ataxic CP in children, even though heterozygous mutations have previously been associated with adult onset spinocerebellar ataxia. \nSources: Literature","entity_name":"SPTBN2","entity_type":"gene"},{"created":"2023-07-31T20:25:03.817188+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF4A2 as ready","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2023-07-31T20:25:03.806252+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif4a2 has been classified as Green List (High Evidence).","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2023-07-31T20:24:10.828972+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EIF4A2 were changed from DYSTONIA; TREMOR to Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2023-07-31T20:23:48.752128+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF4A2 as Green List (high evidence)","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2023-07-31T20:23:48.732801+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif4a2 has been classified as Green List (High Evidence).","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2023-07-31T20:23:25.125879+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EIF4A2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2023-07-31T20:23:07.832452+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EIF4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2023-07-31T20:20:27.748872+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.146","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPN11 were changed from LEOPARD syndrome 1 MIM#151100; Leukemia, juvenile myelomonocytic, somatic MIM#607785; Metachondromatosis MIM#156250; Noonan syndrome MIM#163950 to LEOPARD syndrome 1 MIM#151100; Noonan syndrome MIM#163950","entity_name":"PTPN11","entity_type":"gene"},{"created":"2023-07-31T20:19:53.522570+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.145","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPN11 as ready","entity_name":"PTPN11","entity_type":"gene"},{"created":"2023-07-31T20:19:53.517089+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.145","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Very little phenotypic overlap between NS and CP.","entity_name":"PTPN11","entity_type":"gene"},{"created":"2023-07-31T20:19:53.472676+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.145","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn11 has been classified as Amber List (Moderate Evidence).","entity_name":"PTPN11","entity_type":"gene"},{"created":"2023-07-31T20:19:37.251139+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.145","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTPN11 as Amber List (moderate evidence)","entity_name":"PTPN11","entity_type":"gene"},{"created":"2023-07-31T20:19:37.235586+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.145","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn11 has been classified as Amber List (Moderate Evidence).","entity_name":"PTPN11","entity_type":"gene"},{"created":"2023-07-31T20:18:29.707529+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1875","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM63B as ready","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2023-07-31T20:18:29.690302+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1875","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem63b has been classified as Green List (High Evidence).","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2023-07-31T20:18:12.259617+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1875","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM63B as Green List (high evidence)","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2023-07-31T20:18:12.249505+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1875","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem63b has been classified as Green List (High Evidence).","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2023-07-31T20:17:31.246945+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1874","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM63B was added\ngene: TMEM63B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TMEM63B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM63B were set to 37421948\nPhenotypes for gene: TMEM63B were set to developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related\nReview for gene: TMEM63B was set to GREEN\nAdded comment: 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment were identified with ten distinct heterozygous variants inTMEM63B. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense or in-frame. All individuals had global developmental delay, with moderate-to-profound intellectual disability and severe motor impairment. All individuals had early-onset drug-resistant epilepsy, whose onset ranged from birth to 3 years but occurred within the first year in 14/17 (82%) and in the first month of life in 6/17 (35%). \nSources: Literature","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2023-07-31T20:15:34.562928+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5309","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM63B as ready","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2023-07-31T20:15:34.547917+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5309","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem63b has been classified as Green List (High Evidence).","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2023-07-31T20:11:43.680992+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5309","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM63B as Green List (high evidence)","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2023-07-31T20:11:43.668949+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5309","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem63b has been classified as Green List (High Evidence).","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2023-07-31T20:11:13.187329+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5308","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM63B was added\ngene: TMEM63B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TMEM63B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM63B were set to 37421948\nPhenotypes for gene: TMEM63B were set to developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related\nReview for gene: TMEM63B was set to GREEN\nAdded comment: 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment were identified with ten distinct heterozygous variants inTMEM63B. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense or in-frame. All individuals had global developmental delay, with moderate-to-profound intellectual disability and severe motor impairment. All individuals had early-onset drug-resistant epilepsy, whose onset ranged from birth to 3 years but occurred within the first year in 14/17 (82%) and in the first month of life in 6/17 (35%). \nSources: Literature","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2023-07-31T20:09:20.827588+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1048","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM63B as ready","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2023-07-31T20:09:20.813856+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1048","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem63b has been classified as Green List (High Evidence).","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2023-07-31T20:09:11.291649+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1048","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM63B were changed from developmental and epileptic encephalopathy, MONDO:0100062 to developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2023-07-31T20:08:35.164126+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1047","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM63B as Green List (high evidence)","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2023-07-31T20:08:35.148462+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1047","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem63b has been classified as Green List (High Evidence).","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2023-07-31T20:05:23.562850+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5307","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHX9 as ready","entity_name":"DHX9","entity_type":"gene"},{"created":"2023-07-31T20:05:23.556007+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5307","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: LoF variants caused mild NDD phenotypes and nuclear localization signal (NLS) missense variants caused severe NDD. CMT2-associated missense variants caused aberrant nucleolar DHX9 accumulation, a phenomenon previously associated with cellular stress.","entity_name":"DHX9","entity_type":"gene"},{"created":"2023-07-31T20:05:23.520627+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5307","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhx9 has been classified as Green List (High Evidence).","entity_name":"DHX9","entity_type":"gene"},{"created":"2023-07-31T20:05:00.261342+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1046","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHX9 as ready","entity_name":"DHX9","entity_type":"gene"},{"created":"2023-07-31T20:05:00.252500+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1046","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: LoF variants caused mild NDD phenotypes and nuclear localization signal (NLS) missense variants caused severe NDD. CMT2-associated missense variants caused aberrant nucleolar DHX9 accumulation, a phenomenon previously associated with cellular stress.","entity_name":"DHX9","entity_type":"gene"},{"created":"2023-07-31T20:05:00.159722+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1046","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhx9 has been classified as Green List (High Evidence).","entity_name":"DHX9","entity_type":"gene"},{"created":"2023-07-31T20:00:58.738565+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5307","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHX9 as ready","entity_name":"DHX9","entity_type":"gene"},{"created":"2023-07-31T20:00:58.724273+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5307","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhx9 has been classified as Green List (High Evidence).","entity_name":"DHX9","entity_type":"gene"},{"created":"2023-07-31T20:00:50.447613+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5307","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DHX9 as Green List (high evidence)","entity_name":"DHX9","entity_type":"gene"},{"created":"2023-07-31T20:00:50.433865+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5307","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhx9 has been classified as Green List (High Evidence).","entity_name":"DHX9","entity_type":"gene"},{"created":"2023-07-31T20:00:20.752976+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5306","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DHX9 was added\ngene: DHX9 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DHX9 were set to 37467750\nPhenotypes for gene: DHX9 were set to Neurodevelopmental disorder, MONDO:0700092, DHX9-related\nReview for gene: DHX9 was set to GREEN\nAdded comment: PMID:37467750 - 17 unrelated individuals were identified with de novo, ultra-rare, heterozygous missense or loss-of-function DHX9 variants, of which 14 individuals were reported with a neurodevelopmental disorder (NDD) and three were reported with Charcot-Marie-Tooth disease (CMT). All 14 cases with NDD had developmental delay, of which eight were reported with intellectual disability (4 severe, 1 moderate, 3 mild). Two cases did not have ID, one had borderline ID and three cases were too young (0-5 years old). The three cases with CMT presented with adult-onset axonal neuropathy. \nSources: Literature","entity_name":"DHX9","entity_type":"gene"},{"created":"2023-07-31T19:14:04.977394+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1046","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHX9 as ready","entity_name":"DHX9","entity_type":"gene"},{"created":"2023-07-31T19:14:04.967508+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1046","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhx9 has been classified as Green List (High Evidence).","entity_name":"DHX9","entity_type":"gene"},{"created":"2023-07-31T19:13:51.235139+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1046","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DHX9 as Green List (high evidence)","entity_name":"DHX9","entity_type":"gene"},{"created":"2023-07-31T19:13:51.221862+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1046","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhx9 has been classified as Green List (High Evidence).","entity_name":"DHX9","entity_type":"gene"},{"created":"2023-07-31T19:02:46.552506+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASR as ready","entity_name":"CASR","entity_type":"gene"},{"created":"2023-07-31T19:02:46.540323+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casr has been classified as Green List (High Evidence).","entity_name":"CASR","entity_type":"gene"},{"created":"2023-07-31T19:00:59.333767+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CASR were changed from Hypocalciuric Hypercalcemic; Hyperparathyroidism; paroxysmal dyskinesia; brain calcification to Hypocalciuric hypercalcemia, type I, MIM#\t145980; Hypocalciuric Hypercalcemic; Hyperparathyroidism; paroxysmal dyskinesia; brain calcification","entity_name":"CASR","entity_type":"gene"},{"created":"2023-07-31T19:00:13.198110+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CASR as Green List (high evidence)","entity_name":"CASR","entity_type":"gene"},{"created":"2023-07-31T19:00:13.186602+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casr has been classified as Green List (High Evidence).","entity_name":"CASR","entity_type":"gene"},{"created":"2023-07-31T18:58:42.022928+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCOLN1 as ready","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2023-07-31T18:58:42.011711+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcoln1 has been classified as Green List (High Evidence).","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2023-07-31T18:58:37.484507+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCOLN1 as Green List (high evidence)","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2023-07-31T18:58:37.471279+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcoln1 has been classified as Green List (High Evidence).","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2023-07-31T18:58:27.971426+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCOLN1 was added\ngene: MCOLN1 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCOLN1 were set to 17239335; 25156245; 35205297\nPhenotypes for gene: MCOLN1 were set to Mucolipidosis IV, MIM# 252650; MONDO:0009653\nReview for gene: MCOLN1 was set to GREEN\nAdded comment: patients with MCOLN1-associated mucolipidosis IV present with ocular phenotypes including retinal dystrophy.\r\n\r\nMucolipidosis type IV caused by biallelic variants in MCOLN1 gene ism a lysosomal disease that primarily affects the central nervous system. It manifests with severely impaired psychomotor development, and later onset, gradual neurological decline paralleled by cerebellar degeneration and neuroaxonal injury. In addition, they also manifest retinal dystrophy, which develops in the first years of life and rapidly progresses in adolescence, leaving patients legally blind by the second decade (PMID:33965501).\r\n\r\nThe following are some of the reported cases:\r\nPMID:17239335 - Compound heterozygous variants in MCOLN1 were identified in a patient with mucolipidosis type IV (ML IV), who had low visual acuity and cloudy corneas since 2 years of age, progressive decrease in visual acuity since the age of 9 years.\r\nPMID:25156245 - An Italian child with ML IV was identified with homozygous MCOLN1 variants (c.395_397delCTG & c.468_474dupTTGGACC), while his parents were heterozygous for the same variants. Ophthalmological manifestations included esotropia, bilateral corneal clouding and severe myopia.\r\nPMID:35205297 - Six patients from two Omani families with ML IV were identified with a novel variant (c.237+5G>A) in MCOLN1 gene, which is not present in control subjects screened with a high-resolution melting (HRM) assay. The patients displayed ophthalmic manifestations including corneal haziness, pigmentary retinopathy and ERG-rod cone dysfunction. \nSources: Expert list","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2023-07-31T16:12:33.567691+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.144","user_name":"Luisa Weiss","item_type":"entity","text":"gene: SPR was added\ngene: SPR was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SPR were set to 33528536; 34540776; 22522443\nPhenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716\nReview for gene: SPR was set to GREEN\nAdded comment: Two large CP cohort studies with one case each presenting with CP and biallelic SPR mutations.  In one large study from 2012, 43 individuals with Sepiapterin reductase deficiency (SRD) were clinically analyzed, diagnoses of cerebral palsy (CP) were common, both hypotonic and dystonic. \nSources: Literature","entity_name":"SPR","entity_type":"gene"},{"created":"2023-07-31T15:59:01.987929+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.144","user_name":"Luisa Weiss","item_type":"entity","text":"gene: SPATA5 was added\ngene: SPATA5 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA5 were set to 33528536\nPhenotypes for gene: SPATA5 were set to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577\nReview for gene: SPATA5 was set to GREEN\nAdded comment: 4 individual cases in one large CP cohort study with biallelic SPATA5 mutations. Spasticity has been described in other patients as well while developmental delay seems to be mostly present. \nSources: Literature","entity_name":"SPATA5","entity_type":"gene"},{"created":"2023-07-31T15:53:44.933972+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.144","user_name":"Luisa Weiss","item_type":"entity","text":"gene: SON was added\ngene: SON was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SON were set to 33528536\nPhenotypes for gene: SON were set to ZTTK syndrome MIM#617140\nReview for gene: SON was set to AMBER\nAdded comment: 2 individual cases in one large CP cohort study. However, usually ZITK syndrome is a multisystem disorder and intellectual disabilities, and organ malformations seem to be leading phenotypic features. \nSources: Literature","entity_name":"SON","entity_type":"gene"},{"created":"2023-07-31T15:47:53.604507+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.144","user_name":"Luisa Weiss","item_type":"entity","text":"gene: SNX14 was added\ngene: SNX14 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNX14 were set to 34540776; 29997391\nPhenotypes for gene: SNX14 were set to Spinocerebellar ataxia, autosomal recessive 20 MIM#616354\nReview for gene: SNX14 was set to AMBER\nAdded comment: One case in a large CP cohort study. In addition, one patient in a large cohort study on congenital ataxia, which can present as dystonic cerebral palsy. \nSources: Literature","entity_name":"SNX14","entity_type":"gene"},{"created":"2023-07-31T15:38:06.106505+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.144","user_name":"Luisa Weiss","item_type":"entity","text":"reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33528536, 34114234; Phenotypes: Coffin-Siris syndrome 3 MIM#614608, Rhabdoid tumors, somatic MIM#609322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2023-07-31T15:24:54.407347+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.144","user_name":"Luisa Weiss","item_type":"entity","text":"gene: SLITRK2 was added\ngene: SLITRK2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SLITRK2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SLITRK2 were set to 35840571\nPhenotypes for gene: SLITRK2 were set to Intellectual developmental disorder, X-linked MIM#301107\nReview for gene: SLITRK2 was set to GREEN\nAdded comment: Case study of several patients harboring SLITRK2 variants and neurodevelopmental delay. Three patients reported with spasticity, diplegic cerebral palsy and dystonic diplegia, respectively. Functional tests show impaired neuronal function and knock-out mice showed abnormal gait. \nSources: Literature","entity_name":"SLITRK2","entity_type":"gene"},{"created":"2023-07-31T15:16:58.526859+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.144","user_name":"Luisa Weiss","item_type":"entity","text":"gene: SLC5A6 was added\ngene: SLC5A6 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC5A6 were set to 33528536; 21112253; 33098801\nPhenotypes for gene: SLC5A6 were set to Parkinsonism-dystonia, infantile, 1 MIM#613135\nReview for gene: SLC5A6 was set to GREEN\nAdded comment: 21112253 presents a clinical overview of 11 children with biallelic SLC6A3 mutations, 7 of which were initially diagnosed with CP. In addition, two more CP cohort studies with one patient each harboring SLC6A3 mutations. \nSources: Literature","entity_name":"SLC5A6","entity_type":"gene"},{"created":"2023-07-31T15:05:53.481456+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.144","user_name":"Luisa Weiss","item_type":"entity","text":"gene: SLC16A2 was added\ngene: SLC16A2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SLC16A2 were set to 33528536; 35076175; 25280894\nPhenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome MIM#300523\nReview for gene: SLC16A2 was set to GREEN\nAdded comment: Four individual cases in three large CP cohort studies presenting as dystonic or spastic CP. Mutations described were both nonsense and missense mutations and could be inherited maternally or de novo. \nSources: Literature","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2023-07-31T14:56:02.548710+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.144","user_name":"Luisa Weiss","item_type":"entity","text":"gene: SLC13A5 was added\ngene: SLC13A5 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC13A5 were set to 34364746; 34540776\nPhenotypes for gene: SLC13A5 were set to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905\nReview for gene: SLC13A5 was set to AMBER\nAdded comment: Two large case studies with one patient described each harboring homozygous SLC13A5 variants, however, in PMID 34540776 this variant was defined as a VUS rather than a pathogenic mutation. \r\nIn other described cases epilepsy and ID seem to be the main phenotypic features, while ataxia and spasticity have been desribed. \nSources: Literature","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2023-07-31T14:32:07.766069+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.144","user_name":"Luisa Weiss","item_type":"entity","text":"reviewed gene: SHANK3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33528536, 33098801; Phenotypes: Phelan-McDermid syndrome MIM#606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHANK3","entity_type":"gene"},{"created":"2023-07-31T14:19:08.422233+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.144","user_name":"Luisa Weiss","item_type":"entity","text":"gene: SEPSECS was added\ngene: SEPSECS was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEPSECS were set to 33528536; 35252561; 34540776; 36085396\nPhenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D MIM#613811\nReview for gene: SEPSECS was set to GREEN\nAdded comment: Biallelic SEPSECS mutations have been described to cause Pontocerebellar hypoplasia type 2D, which usually presents with progressive microcephaly, progressive brain atrophy, ID and variable seizures and movement disorders. \r\nThere have been two cases in two large CP cohort studies (33528536, 34540776) which have been proven to harbor biallelic SEPSECS variants, however, in PMID 34540776 these can only be formally classified as VUS. In addition, there is a case report (PMID 35252561) of a man presenting with no CP but spastic paraparesis and only slow disease progression in adult life (patient 48 years old at time of presentation). PMID 36085396 provides a literature review of described PCD2D patients, 72.7% of which have presented with spastic or dystonic quadriplegia, so there is significant phenotypic overlap with CP. \nSources: Literature","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2023-07-31T13:50:13.716061+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.144","user_name":"Luisa Weiss","item_type":"entity","text":"gene: SATB2 was added\ngene: SATB2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SATB2 were set to 33528536; 35076175\nPhenotypes for gene: SATB2 were set to Glass syndrome MIM#612313\nReview for gene: SATB2 was set to GREEN\nAdded comment: 4 patients in 3 large CP cohort studies were found to have heterozygous de novo SATB2 mutations, three of which were nonsense and one was a missense mutation. Note that in one patient an additional acute perinatal event (neonatal compartment syndrome, intracranial hemorrhage) was present which might have added to the CP phenotype. \nSources: Literature","entity_name":"SATB2","entity_type":"gene"},{"created":"2023-07-31T13:35:52.878402+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.144","user_name":"Luisa Weiss","item_type":"entity","text":"gene: SACS was added\ngene: SACS was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SACS were set to 33528536; 34816117; 29997391\nPhenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type MIM#270550\nReview for gene: SACS was set to GREEN\nAdded comment: Multiple large and small cohort studies with more than 3 individual patients initially diagnosed as cerebral palsy and later diagnosed with biallelic SACS mutations. SACS is a known disease gene for spastic ataxia of Charlevoix-Saguenay, which can resemble CP but usually has a progressive course of disease. \nSources: Literature","entity_name":"SACS","entity_type":"gene"},{"created":"2023-07-31T12:36:20.157012+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.144","user_name":"Luisa Weiss","item_type":"entity","text":"gene: RARS2 was added\ngene: RARS2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RARS2 were set to 34077496; 34717047\nPhenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6\tMIM#611523\nReview for gene: RARS2 was set to GREEN\nAdded comment: Two male patients in a large CP cohort study with either spastic quadriplegic or dyskinetic CP. Both frameshift and missense mutations have been described. \r\nPMID 34717047 presents a good overview of published cases with RARS2 mutations. Even though none of them were officially diagnosed with cerebral palsy, many showed progressive movement disorders like spastic quadriplegia, thus possibly presenting as CP. \nSources: Literature","entity_name":"RARS2","entity_type":"gene"},{"created":"2023-07-31T11:59:52.510986+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.144","user_name":"Luisa Weiss","item_type":"entity","text":"gene: RAB3GAP1 was added\ngene: RAB3GAP1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB3GAP1 were set to 33528536; 16532399; 27081543\nPhenotypes for gene: RAB3GAP1 were set to Martsolf syndrome 2 MIM#619420; Warburg micro syndrome MIM#600118\nReview for gene: RAB3GAP1 was set to GREEN\nAdded comment: Multiple case reports of patients with either Martsolf syndrome or Warburg micro syndrome and spastic diplegia or cerebral palsy, but all patients also presented with eye phenotype. In addition, two individuals in a large CP cohort study (no additional phenotypic information given). \nSources: Literature","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2023-07-31T11:06:13.367043+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5305","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NLGN4X were set to 12669065; 18231125; 10071191; 29428674","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2023-07-31T11:05:03.580938+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5304","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NLGN4X as Green List (high evidence)","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2023-07-31T11:05:03.566049+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5304","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlgn4x has been classified as Green List (High Evidence).","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2023-07-31T09:28:28.457395+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.144","user_name":"Luisa Weiss","item_type":"entity","text":"gene: PTPN23 was added\ngene: PTPN23 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPN23 were set to 31395947; 25558065; 34064836\nPhenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890\nReview for gene: PTPN23 was set to AMBER\nAdded comment: Biallelic PTPN23 mutations have been associated with neurodevelopmental delay and structural brain abnormalities in an initial study of 7 patients. In this cohort, one had the initial diagnosis of cerebral palsy (patient 6), but one other patient (patient 4) showed spasticity and contractures and thus phenotypic overlap. In addition, this study referred to another study (25558065), in which a family with PTPN23 mutations was described. Even though in PMID:31395947 this family was described as having CP, this cannot be confirmed in the initial report. Note that final exon frameshift mutations in PTPN23 have been associated complex hereditary spastic paraplegia which might hint to a phenotypic overlap to CP. \nSources: Literature","entity_name":"PTPN23","entity_type":"gene"}]}