{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=804","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=802","results":[{"created":"2022-07-13T16:53:45.960109+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nek8 has been classified as Amber List (Moderate Evidence).","entity_name":"NEK8","entity_type":"gene"},{"created":"2022-07-13T16:53:43.430051+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEK8 were changed from Renal cystic disease to Familial renal cystic disease MONDO:0019741, NEK8-related, dominant","entity_name":"NEK8","entity_type":"gene"},{"created":"2022-07-13T16:53:04.639817+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEK8 were changed from Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174 to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174; Familial renal cystic disease MONDO:0019741, NEK8-related, dominant","entity_name":"NEK8","entity_type":"gene"},{"created":"2022-07-13T16:51:54.670669+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NEK8 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NEK8","entity_type":"gene"},{"created":"2022-07-13T16:51:03.304577+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SKIV2L as ready","entity_name":"SKIV2L","entity_type":"gene"},{"created":"2022-07-13T16:51:03.290573+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: skiv2l has been classified as Green List (High Evidence).","entity_name":"SKIV2L","entity_type":"gene"},{"created":"2022-07-13T16:51:00.210961+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SKIV2L were set to PMID: 22444670, 33114497, 30397475, 29527791, 29484573","entity_name":"SKIV2L","entity_type":"gene"},{"created":"2022-07-13T16:50:16.895692+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TULP3 as ready","entity_name":"TULP3","entity_type":"gene"},{"created":"2022-07-13T16:50:16.883423+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tulp3 has been classified as Green List (High Evidence).","entity_name":"TULP3","entity_type":"gene"},{"created":"2022-07-13T16:50:13.954361+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TULP3 were changed from progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045 to Hepatorenocardiac degenerative fibrosis, MIM# 619902","entity_name":"TULP3","entity_type":"gene"},{"created":"2022-07-13T16:49:02.281154+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatorenocardiac degenerative fibrosis, MIM# 619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TULP3","entity_type":"gene"},{"created":"2022-07-13T16:47:46.826983+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.486","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DRD2 as ready","entity_name":"DRD2","entity_type":"gene"},{"created":"2022-07-13T16:47:46.819168+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.486","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: drd2 has been classified as Red List (Low Evidence).","entity_name":"DRD2","entity_type":"gene"},{"created":"2022-07-13T16:47:44.499265+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.486","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DRD2 were changed from  to Combined dystonia, MONDO:0020065, DRD2-related","entity_name":"DRD2","entity_type":"gene"},{"created":"2022-07-13T16:47:19.119038+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.485","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DRD2 were set to ","entity_name":"DRD2","entity_type":"gene"},{"created":"2022-07-13T16:46:54.712643+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.484","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: DRD2 was changed from  to Other","entity_name":"DRD2","entity_type":"gene"},{"created":"2022-07-13T16:46:30.198639+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.483","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DRD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DRD2","entity_type":"gene"},{"created":"2022-07-13T16:46:06.337898+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.482","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DRD2 as Red List (low evidence)","entity_name":"DRD2","entity_type":"gene"},{"created":"2022-07-13T16:46:06.329867+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.482","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: drd2 has been classified as Red List (Low Evidence).","entity_name":"DRD2","entity_type":"gene"},{"created":"2022-07-13T16:45:38.833483+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.481","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: Other; Publications: 33200438; Phenotypes: Combined dystonia, MONDO:0020065, DRD2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DRD2","entity_type":"gene"},{"created":"2022-07-13T16:43:17.530729+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DRD2 were changed from  to Combined dystonia, MONDO:0020065, DRD2-related; dystonia; chorea; anxiety; ataxia; orofacial dyskinesia; tremor; memory problems","entity_name":"DRD2","entity_type":"gene"},{"created":"2022-07-13T16:42:58.170644+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.95","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: DRD2 was changed from  to Other","entity_name":"DRD2","entity_type":"gene"},{"created":"2022-07-13T16:42:42.308923+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DRD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DRD2","entity_type":"gene"},{"created":"2022-07-13T16:41:33.770691+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: Other; Publications: 33200438; Phenotypes: Combined dystonia, MONDO:0020065, DRD2-related, dystonia, chorea, anxiety, ataxia, orofacial dyskinesia, tremor, memory problems; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DRD2","entity_type":"gene"},{"created":"2022-07-13T16:38:28.026808+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADAR were set to 33528536","entity_name":"ADAR","entity_type":"gene"},{"created":"2022-07-13T16:38:01.209388+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ADAR","entity_type":"gene"},{"created":"2022-07-13T16:35:37.887086+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELOVL1 as ready","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2022-07-13T16:35:37.871031+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elovl1 has been classified as Green List (High Evidence).","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2022-07-13T16:34:53.492345+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ELOVL1 were changed from MIM 618527 to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2022-07-13T16:34:23.661984+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ELOVL1 were set to (PMID: 35379526; 30487246; 29496980)","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2022-07-13T16:33:17.852405+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ELOVL1 as Green List (high evidence)","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2022-07-13T16:33:17.841152+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elovl1 has been classified as Green List (High Evidence).","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2022-07-13T16:32:51.953237+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2022-07-13T16:31:58.815886+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THSD1 were changed from Aneurysm, intracranial berry, 12 , MIM# 618734 to Aneurysm, intracranial berry, 12 , MIM# 618734; Hydrops fetalis MONDO:0015193, THSD1-related","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-07-13T16:31:18.368960+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.92","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: THSD1 were set to 27895300","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-07-13T16:30:38.375598+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: THSD1 as Green List (high evidence)","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-07-13T16:30:38.363601+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thsd1 has been classified as Green List (High Evidence).","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-07-13T16:30:33.515407+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: THSD1 as Green List (high evidence)","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-07-13T16:30:33.504551+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thsd1 has been classified as Green List (High Evidence).","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-07-13T16:29:15.528131+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: THSD1 as Green List (high evidence)","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-07-13T16:29:15.520245+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thsd1 has been classified as Green List (High Evidence).","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-07-13T16:28:46.177124+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: THSD1 as ready","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-07-13T16:28:46.165474+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thsd1 has been classified as Amber List (Moderate Evidence).","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-07-13T16:28:38.674684+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THSD1 were changed from nonimmune hydrops fetalis to Hydrops fetalis MONDO:0015193, THSD1-related","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-07-12T16:44:50.080781+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.3","user_name":"Peter McNaughton","item_type":"entity","text":"reviewed gene: CXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34854278; Phenotypes: Neutropaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CXCR2","entity_type":"gene"},{"created":"2022-07-12T16:31:47.566945+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.143","user_name":"Peter McNaughton","item_type":"entity","text":"gene: PDCD1 was added\ngene: PDCD1 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: PDCD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDCD1 were set to PMID: 34183838\nPhenotypes for gene: PDCD1 were set to Complex Autoimmunity\nReview for gene: PDCD1 was set to RED\nAdded comment: Single patient born to consanguineous parents presenting with type 1 diabetes (T1D), hypothyroidism, and juvenile idiopathic arthritis (JIA) \nSources: Literature","entity_name":"PDCD1","entity_type":"gene"},{"created":"2022-07-12T16:17:47.027159+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.143","user_name":"Peter McNaughton","item_type":"entity","text":"gene: RHOG was added\ngene: RHOG was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: RHOG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RHOG were set to PMID: 33513601\nPhenotypes for gene: RHOG were set to HLH\nReview for gene: RHOG was set to RED\nAdded comment: Single patient with supportive functional data. \nSources: Literature","entity_name":"RHOG","entity_type":"gene"},{"created":"2022-07-12T15:57:00.239155+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.110","user_name":"Peter McNaughton","item_type":"entity","text":"gene: TNFSF13 was added\ngene: TNFSF13 was added to Predominantly Antibody Deficiency. Sources: Literature\nMode of inheritance for gene: TNFSF13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFSF13 were set to PMID: 32298700\nPhenotypes for gene: TNFSF13 were set to Hypogammaglobulinaemia\nReview for gene: TNFSF13 was set to RED\nAdded comment: Single patient born to consanguineous parents \nSources: Literature","entity_name":"TNFSF13","entity_type":"gene"},{"created":"2022-07-12T15:48:43.300585+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.110","user_name":"Peter McNaughton","item_type":"entity","text":"gene: POU2AF1 was added\ngene: POU2AF1 was added to Predominantly Antibody Deficiency. Sources: Literature\nMode of inheritance for gene: POU2AF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POU2AF1 were set to PMID: 33571536\nPhenotypes for gene: POU2AF1 were set to Agammaglobulinaemia\nReview for gene: POU2AF1 was set to RED\nAdded comment: Single patient from consanguineous parents lacking immunoglobulins despite normal total B-cell numbers. \nSources: Literature","entity_name":"POU2AF1","entity_type":"gene"},{"created":"2022-07-12T15:43:11.299788+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.110","user_name":"Peter McNaughton","item_type":"entity","text":"gene: PIK3CG was added\ngene: PIK3CG was added to Predominantly Antibody Deficiency. Sources: Literature\nMode of inheritance for gene: PIK3CG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIK3CG were set to PMID: 31554793; PMID: 33054089\nPhenotypes for gene: PIK3CG were set to Humoral deficiency; Immune dysregulation; HLH\nReview for gene: PIK3CG was set to AMBER\nAdded comment: Included in IUIS 2022 update predominantly antibody deficiency.  \r\nPMID: 31554793 female patient presented with haemolytic anaemia, pulmonary impairment and hypogammaglobulinaemia. \nSources: Literature","entity_name":"PIK3CG","entity_type":"gene"},{"created":"2022-07-12T15:24:22.251832+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.15","user_name":"Peter McNaughton","item_type":"entity","text":"gene: DIAPH1 was added\ngene: DIAPH1 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DIAPH1 were set to PMID: 33662367\nPhenotypes for gene: DIAPH1 were set to Combined Immune deficiency\nReview for gene: DIAPH1 was set to GREEN\nAdded comment: 5 Finnish and 2 Omani patients with B and T cell defects \nSources: Literature","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2022-07-12T15:15:30.301719+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.83","user_name":"Peter McNaughton","item_type":"entity","text":"gene: CD28 was added\ngene: CD28 was added to Susceptibility to Viral Infections. Sources: Literature\nMode of inheritance for gene: CD28 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD28 were set to PMID: 34214472\nPhenotypes for gene: CD28 were set to isolated susceptibility to cutaneous α- and γ-HPVs\nReview for gene: CD28 was set to RED\nAdded comment: Rare homozygous CD28 variant segregates with severe verrucosis in three relatives and supportive functional data. \nSources: Literature","entity_name":"CD28","entity_type":"gene"},{"created":"2022-07-12T15:02:50.526079+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.15","user_name":"Peter McNaughton","item_type":"entity","text":"reviewed gene: IKZF3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34694366; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IKZF3","entity_type":"gene"},{"created":"2022-07-12T14:52:33.788975+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.15","user_name":"Peter McNaughton","item_type":"entity","text":"gene: COPG1 was added\ngene: COPG1 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: COPG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COPG1 were set to PMID: 33529166\nPhenotypes for gene: COPG1 were set to Combined Immune deficiency\nReview for gene: COPG1 was set to RED\nAdded comment: Five Omani siblings, born to consanguineous parents \nSources: Literature","entity_name":"COPG1","entity_type":"gene"},{"created":"2022-07-12T14:44:14.470764+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.15","user_name":"Peter McNaughton","item_type":"entity","text":"gene: MAN2B2 was added\ngene: MAN2B2 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAN2B2 were set to PMID: 31775018\nPhenotypes for gene: MAN2B2 were set to Combined Immune deficiency\nReview for gene: MAN2B2 was set to RED\nAdded comment: Single syndromic patient with combined immune deficiency \nSources: Literature","entity_name":"MAN2B2","entity_type":"gene"},{"created":"2022-07-12T11:55:22.690565+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1628","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRPM3 were changed from Intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, TRPM3-related","entity_name":"TRPM3","entity_type":"gene"},{"created":"2022-07-12T11:54:28.131872+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRPM3 were changed from Intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, TRPM3-related","entity_name":"TRPM3","entity_type":"gene"},{"created":"2022-07-12T11:53:16.149575+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4832","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRPM3 were changed from Intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, TRPM3-related","entity_name":"TRPM3","entity_type":"gene"},{"created":"2022-07-11T17:11:14.558954+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.31","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: None; Publications: 22717650, 29473047; Phenotypes: Spastic paraplegia 53, autosomal recessive (MIM#614898); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS37A","entity_type":"gene"},{"created":"2022-07-11T17:10:26.905513+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.31","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: UQCRQ: Rating: RED; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4 (MIM#615159); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UQCRQ","entity_type":"gene"},{"created":"2022-07-11T17:08:59.812160+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.31","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SGO1: Rating: RED; Mode of pathogenicity: None; Publications: 25282101; Phenotypes: Chronic atrial and intestinal dysrhythmia, MIM# 616201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SGO1","entity_type":"gene"},{"created":"2022-07-11T17:07:34.894416+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.31","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: 10449641, 12070254, 10655063, 25081361; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-07-11T17:05:41.456736+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.31","user_name":"Crystle Lee","item_type":"entity","text":"commented on gene: ALG2: One additional variant reported in association with CDG on top of the previously reviewed patients reported with CDG/congenital myasthenia\r\n\r\nPMID: 33644825: R251L reported in 3 probands from 2 families with CDG (same patients in PMID: 30397276)","entity_name":"ALG2","entity_type":"gene"},{"created":"2022-07-11T16:59:57.372497+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.108","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: IGFBP7: Rating: RED; Mode of pathogenicity: None; Publications: 34519236, 31730227, 32429784; Phenotypes: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (MIM#614224); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-07-11T16:42:16.476370+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.108","user_name":"Crystle Lee","item_type":"entity","text":"changed review comment from: One additional variant reported in association with CDG on top of the previous patients reported with CDG/congenital myasthenia\r\n\r\nPMID: 33644825: R251L reported in 3 probands from 2 families with CDG (same patients in PMID: 30397276)\r\n\r\nAssociation with myasthenia: Two families reported, same, likely founder variant.\r\n\r\nAssociation with CDG: one individual with multisystemic disorder with ID, seizures, coloboma of the iris, hypomyelination, hepatomegaly, and coagulation abnormalities reported in PMID 12684507. Fibroblasts showed severely reduced enzymatic activity.; to: One additional variant reported in association with CDG on top of the previously reviewed patients reported with CDG/congenital myasthenia\r\n\r\nPMID: 33644825: R251L reported in 3 probands from 2 families with CDG (same patients in PMID: 30397276)\r\n\r\nAssociation with myasthenia: Two families reported, same, likely founder variant.\r\n\r\nAssociation with CDG: one individual with multisystemic disorder with ID, seizures, coloboma of the iris, hypomyelination, hepatomegaly, and coagulation abnormalities reported in PMID 12684507. Fibroblasts showed severely reduced enzymatic activity.","entity_name":"ALG2","entity_type":"gene"},{"created":"2022-07-11T16:41:44.557028+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.108","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33644825, 23404334, 24461433, 12684507, 30397276; Phenotypes: Congenital disorder of glycosylation, type Ii (MIM#607906), Myasthenic syndrome, congenital, 14, with tubular aggregates (MIM#616228); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG2","entity_type":"gene"},{"created":"2022-07-11T15:47:23.209319+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.108","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2022-07-11T15:31:51.707442+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.108","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SGO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic atrial and intestinal dysrhythmia (MIM#616201); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SGO1","entity_type":"gene"},{"created":"2022-07-11T15:23:10.720668+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.108","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: None; Publications: 22717650, 29473047; Phenotypes: Spastic paraplegia 53, autosomal recessive (MIM#614898); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS37A","entity_type":"gene"},{"created":"2022-07-11T14:12:53.295140+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.83","user_name":"Peter McNaughton","item_type":"entity","text":"reviewed gene: IFNAR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35442417; Phenotypes: Severe viral disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFNAR2","entity_type":"gene"},{"created":"2022-07-11T14:10:54.082385+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.83","user_name":"Peter McNaughton","item_type":"entity","text":"reviewed gene: IFNAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35442418; Phenotypes: Severe Viral disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFNAR1","entity_type":"gene"},{"created":"2022-07-11T12:59:16.335914+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.108","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: UQCRQ: Rating: RED; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4 (MIM#615159); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UQCRQ","entity_type":"gene"},{"created":"2022-07-07T11:28:58.903130+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.89","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: SLC26A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Nephrolithiasis, calcium oxalate - MIM#167030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC26A1","entity_type":"gene"},{"created":"2022-07-07T11:25:58.106859+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.45","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NEK8 as Amber List (moderate evidence)","entity_name":"NEK8","entity_type":"gene"},{"created":"2022-07-07T11:25:58.092701+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.45","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nek8 has been classified as Amber List (Moderate Evidence).","entity_name":"NEK8","entity_type":"gene"},{"created":"2022-07-07T11:25:40.179395+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.44","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NEK8 as Amber List (moderate evidence)","entity_name":"NEK8","entity_type":"gene"},{"created":"2022-07-07T11:25:40.169441+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.44","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nek8 has been classified as Amber List (Moderate Evidence).","entity_name":"NEK8","entity_type":"gene"},{"created":"2022-07-07T11:25:23.151051+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.44","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NEK8 as Amber List (moderate evidence)","entity_name":"NEK8","entity_type":"gene"},{"created":"2022-07-07T11:25:23.142691+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.44","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nek8 has been classified as Amber List (Moderate Evidence).","entity_name":"NEK8","entity_type":"gene"},{"created":"2022-07-07T11:24:29.822185+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.43","user_name":"Chirag Patel","item_type":"entity","text":"gene: NEK8 was added\ngene: NEK8 was added to Renal Macrocystic Disease. Sources: Other\nMode of inheritance for gene: NEK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NEK8 were set to Unpublished ESHG presentation\nPhenotypes for gene: NEK8 were set to Renal cystic disease\nMode of pathogenicity for gene: NEK8 was set to Other\nReview for gene: NEK8 was set to AMBER\nAdded comment: 12 families with paediatric renal cystic disease (enlarged kidneys, kidney cysts, ESKF <20yrs)\r\n-3 recurrent HTZ variants in NEK8 kinase domain (Arg45Trp, Ile150Met, Lys157Gln)\r\n-suspected dominant negative effect\r\n-patient fibroblasts show normal ciliogenesis and normal localisation and expression of NEK8\r\n(Note carriers of AR-NEK8 disease do not show renal manifestations, as variants are LOF) \nSources: Other","entity_name":"NEK8","entity_type":"gene"},{"created":"2022-07-07T11:22:57.604588+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.11","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: Unpublished ESHG presentation; Phenotypes: Renal cystic disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NEK8","entity_type":"gene"},{"created":"2022-07-07T11:04:04.514341+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.13","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SKIV2L as Green List (high evidence)","entity_name":"SKIV2L","entity_type":"gene"},{"created":"2022-07-07T11:04:04.502960+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.13","user_name":"Chirag Patel","item_type":"entity","text":"Gene: skiv2l has been classified as Green List (High Evidence).","entity_name":"SKIV2L","entity_type":"gene"},{"created":"2022-07-07T11:03:56.983824+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.12","user_name":"Chirag Patel","item_type":"entity","text":"gene: SKIV2L was added\ngene: SKIV2L was added to Liver Failure_Paediatric. Sources: Literature\nMode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SKIV2L were set to PMID: 22444670, 33114497, 30397475, 29527791, 29484573\nPhenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, MIM# 614602; Respiratory infections; IUGR; Facial dysmorphic features; Wooly hair; Early-onset intractable diarrhoea; Liver cirrhosis; Platelet abnormalities\nReview for gene: SKIV2L was set to GREEN\ngene: SKIV2L was marked as current diagnostic\nAdded comment: Numerous families reported. \nSources: Literature","entity_name":"SKIV2L","entity_type":"gene"},{"created":"2022-07-07T10:28:33.675940+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.11","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TULP3 as Green List (high evidence)","entity_name":"TULP3","entity_type":"gene"},{"created":"2022-07-07T10:28:33.662606+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.11","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tulp3 has been classified as Green List (High Evidence).","entity_name":"TULP3","entity_type":"gene"},{"created":"2022-07-07T10:28:25.145792+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.10","user_name":"Chirag Patel","item_type":"entity","text":"gene: TULP3 was added\ngene: TULP3 was added to Liver Failure_Paediatric. Sources: Literature\nMode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TULP3 were set to PMID: 35397207\nPhenotypes for gene: TULP3 were set to progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045\nReview for gene: TULP3 was set to GREEN\ngene: TULP3 was marked as current diagnostic\nAdded comment: 15 individuals from eight unrelated families with bi-allelic variants in TULP3 were detected. The affected individuals reported are mostly adults, in the 3rd through 7th decades of life, and presented with progressive degenerative liver fibrosis, then variable fibrocystic kidney disease and then hypertrophic cardiomyopathy. The human phenotype was recapitulated in adult zebrafish and confirmed disruption of critical ciliary cargo composition in several primary cell lines derived from affected individuals. Some G-P correlation with 2 x PTV leading to childhood disease (<10yrs), and 2 x missense variants leading to adult onset disease (>20yrs). \nSources: Literature","entity_name":"TULP3","entity_type":"gene"},{"created":"2022-07-07T08:49:17.580978+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.24","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2022-07-06T12:43:12.844945+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZNF423 were changed from Joubert syndrome 19, OMIM# 614844 to Joubert syndrome 19, OMIM# 614844; Nephronophthisis 14, OMIM:614844","entity_name":"ZNF423","entity_type":"gene"},{"created":"2022-07-06T12:39:05.723883+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.89","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Bi-allelic variants in this gene are associated with a severe perinatal skeletal dysplasia.\r\n\r\nMono-allelic variants cause Warburg-Cinotti syndrome, which is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis. Four unrelated families reported with missense variants, which were activating.; to: Bi-allelic variants in this gene are associated with a severe perinatal skeletal dysplasia. LoF.\r\n\r\nMono-allelic variants cause Warburg-Cinotti syndrome, which is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis. Four unrelated families reported with missense variants, which were activating. GoF.","entity_name":"DDR2","entity_type":"gene"},{"created":"2022-07-01T23:00:36.257313+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.23","user_name":"Clare van Eyk","item_type":"entity","text":"changed review comment from: Same novel heterozygous missense variant reported in 2 families (p.Ser165Phe, described twice in the literature, PMIDs 30487246 and 29496980) de novo in one family, unknown inheritance in a second) with similar phenotype which included icthyotic keratoderma, spasticity, hypomyelination and some dysmorphism. Fatty acid profile was altered in HEK293 cells transfected with mutant construct.\r\n\r\nAn additional 2 members of a consanguineous family both with cerebral palsy were described with a novel homozygous variant affecting splicing of ELOVL1 and similar clinical phenotype with earlier onset and more severe phenotype (PMID 35379526) . Heterozygous parents are unaffected. Patient skin samples show defects in very long chain fatty acid synthesis. \nSources: Literature; to: Same novel heterozygous missense variant reported in 2 families (p.Ser165Phe, described twice in the literature, PMIDs 30487246 and 29496980) de novo in one family, unknown inheritance in a second) with similar phenotype which included icthyotic keratoderma, spasticity, hypomyelination and some dysmorphism. Fatty acid profile was altered in HEK293 cells transfected with mutant construct.\r\n\r\nAn additional 2 members of a consanguineous family both with cerebral palsy were described with a novel homozygous variant affecting splicing of ELOVL1 and similar clinical phenotype with earlier onset and more severe phenotype (PMID 35379526) . Heterozygous parents are unaffected. Patient skin samples show defects in very long chain fatty acid synthesis. \r\nSources: Literature","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2022-07-01T17:47:19.312800+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.23","user_name":"Clare van Eyk","item_type":"entity","text":"reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34702576; Phenotypes: Aicardi-Goutieres syndrome 6, MIM#615010; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ADAR","entity_type":"gene"},{"created":"2022-07-01T17:35:43.017383+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.23","user_name":"Clare van Eyk","item_type":"entity","text":"gene: ELOVL1 was added\ngene: ELOVL1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ELOVL1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ELOVL1 were set to (PMID: 35379526; 30487246; 29496980)\nPhenotypes for gene: ELOVL1 were set to MIM 618527\nReview for gene: ELOVL1 was set to GREEN\nAdded comment: Same novel heterozygous missense variant reported in 2 families (p.Ser165Phe, described twice in the literature, PMIDs 30487246 and 29496980) de novo in one family, unknown inheritance in a second) with similar phenotype which included icthyotic keratoderma, spasticity, hypomyelination and some dysmorphism. Fatty acid profile was altered in HEK293 cells transfected with mutant construct.\r\n\r\nAn additional 2 members of a consanguineous family both with cerebral palsy were described with a novel homozygous variant affecting splicing of ELOVL1 and similar clinical phenotype with earlier onset and more severe phenotype (PMID 35379526) . Heterozygous parents are unaffected. Patient skin samples show defects in very long chain fatty acid synthesis. \nSources: Literature","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2022-07-01T15:38:41.845405+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.280","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: THSD1 as Amber List (moderate evidence)","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-07-01T15:38:41.836708+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.280","user_name":"Elena Savva","item_type":"entity","text":"Gene: thsd1 has been classified as Amber List (Moderate Evidence).","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-07-01T11:33:31.181034+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.265","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: PBX1 were changed from 46, XY gonadal dysgenesis to 46, XY gonadal dysgenesis; congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay MONDO:0060549","entity_name":"PBX1","entity_type":"gene"},{"created":"2022-07-01T11:32:31.242371+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.264","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PBX1 were set to 31302614; 31058389","entity_name":"PBX1","entity_type":"gene"},{"created":"2022-07-01T11:29:20.263800+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.263","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PBX1 as Green List (high evidence)","entity_name":"PBX1","entity_type":"gene"},{"created":"2022-07-01T11:29:20.251800+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.263","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pbx1 has been classified as Green List (High Evidence).","entity_name":"PBX1","entity_type":"gene"},{"created":"2022-07-01T11:28:16.360877+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.262","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35451537, 31302614, 31058389, 32141698; Phenotypes: congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay MONDO:0060549; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PBX1","entity_type":"gene"}]}