{"count":221277,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=686","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=684","results":[{"created":"2022-11-25T15:33:22.527675+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.58","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ALG8 as Green List (high evidence)","entity_name":"ALG8","entity_type":"gene"},{"created":"2022-11-25T15:33:22.515683+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.58","user_name":"Chirag Patel","item_type":"entity","text":"Gene: alg8 has been classified as Green List (High Evidence).","entity_name":"ALG8","entity_type":"gene"},{"created":"2022-11-25T15:32:53.886093+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.57","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their comment","entity_name":"ALG8","entity_type":"gene"},{"created":"2022-11-25T15:32:50.731501+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.57","user_name":"Chirag Patel","item_type":"entity","text":"edited their review of gene: ALG8: Added comment: Based on similar ALG genes, the CLINGEN review is discrepant to their review on other similar ALG genes with similar genetic and experimental evidence. Given patients present with PLD with kidney cysts, decision made that evidence is sufficient for PanelApp for classification as GREEN.\r\n\r\nCLINGEN assessed as LIMITED (2020)\r\nMonoallelic ALG8 pathogenic variants were first reported in relation to autosomal dominant polycystic liver disease (ADPLD) in 2017 (Besse et al., PMID: 28375157). Of note, biallelic ALG8 pathogenic variants have been associated with congenital disorder of glycosylation, type Ih (CDG-1h; OMIM #608104). Given that ALG8-associated ADPLD and ALG8-associated CDG-1h have different inheritance modes and phenotypic manifestations, we have split the two disease entities. As noted above, here we only curate the association between ALG8 and ADPLD. At least 3 variants (2 nonsense, 1 splice) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, population-level data, and experimental data. Variants in this gene have been reported in at least 6 probands in 2 publications (PMID: 28375157; PMID: 32457805). This gene-disease association is supported by in vitro functional assays showing reduced maturation of polycystin 1 in ALG8 null cells. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.; Changed rating: GREEN","entity_name":"ALG8","entity_type":"gene"},{"created":"2022-11-25T15:29:33.235593+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.57","user_name":"Chirag Patel","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease; Royal Melbourne Hospital; Genetic Health Queensland","entity_name":null,"entity_type":null},{"created":"2022-11-25T13:38:39.721744+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ALG9 as Green List (high evidence)","entity_name":"ALG9","entity_type":"gene"},{"created":"2022-11-25T13:38:39.709196+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Gene: alg9 has been classified as Green List (High Evidence).","entity_name":"ALG9","entity_type":"gene"},{"created":"2022-11-25T13:38:08.525009+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.55","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31395617, 32398770; Phenotypes: Polycystic kidney disease; Mode of inheritance: None","entity_name":"ALG9","entity_type":"gene"},{"created":"2022-11-25T12:53:50.658932+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.55","user_name":"Chirag Patel","item_type":"entity","text":"gene: SEC16B was added\ngene: SEC16B was added to Renal Macrocystic Disease. Sources: Expert Review\nMode of inheritance for gene: SEC16B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEC16B were set to PMID: 28375157, 28862642, 30652979\nPhenotypes for gene: SEC16B were set to Polycystic liver disease with or without renal cysts, no OMIM #\nReview for gene: SEC16B was set to RED\nAdded comment: CLINGEN assessed as LIMITED (2020)\r\nNo further evidence since for kidney cysts\r\n\r\nSEC61B was first reported in relation to autosomal dominant polycystic liver disease in 2017 (Besse et al., PMID:28375157). At least 2 variants (frameshift, start-loss) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least 2 probands in 1 publication (PMID:28375157). This gene-disease association is supported by in vitro functional assays. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. \nSources: Expert Review","entity_name":"SEC16B","entity_type":"gene"},{"created":"2022-11-25T12:49:04.456039+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.54","user_name":"Chirag Patel","item_type":"entity","text":"gene: ALG8 was added\ngene: ALG8 was added to Renal Macrocystic Disease. Sources: Expert Review\nMode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALG8 were set to PMID: 28375157, 32457805\nPhenotypes for gene: ALG8 were set to Polycystic liver disease 3 with or without kidney cysts, MIM# 617874\nReview for gene: ALG8 was set to RED\nAdded comment: CLINGEN assessed as LIMITED (2020)\r\nNo further evidence since then for kidney cysts.\r\n\r\nMonoallelic ALG8 pathogenic variants were first reported in relation to autosomal dominant polycystic liver disease (ADPLD) in 2017 (Besse et al., PMID: 28375157). Of note, biallelic ALG8 pathogenic variants have been associated with congenital disorder of glycosylation, type Ih (CDG-1h; OMIM #608104). Given that ALG8-associated ADPLD and ALG8-associated CDG-1h have different inheritance modes and phenotypic manifestations, we have split the two disease entities. As noted above, here we only curate the association between ALG8 and ADPLD. At least 3 variants (2 nonsense, 1 splice) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, population-level data, and experimental data. Variants in this gene have been reported in at least 6 probands in 2 publications (PMID: 28375157; PMID: 32457805). This gene-disease association is supported by in vitro functional assays showing reduced maturation of polycystin 1 in ALG8 null cells. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. \nSources: Expert Review","entity_name":"ALG8","entity_type":"gene"},{"created":"2022-11-25T12:39:49.859398+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.482","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ADAMTS9 as Amber List (moderate evidence)","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2022-11-25T12:39:49.847505+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.482","user_name":"Chirag Patel","item_type":"entity","text":"Gene: adamts9 has been classified as Amber List (Moderate Evidence).","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2022-11-25T12:38:56.608126+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.481","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2022-11-25T12:38:32.895327+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.39","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ADAMTS9 as Amber List (moderate evidence)","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2022-11-25T12:38:32.883862+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.39","user_name":"Chirag Patel","item_type":"entity","text":"Gene: adamts9 has been classified as Amber List (Moderate Evidence).","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2022-11-25T12:38:00.992757+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.38","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2022-11-25T12:37:20.694576+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.15","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ADAMTS9 as Amber List (moderate evidence)","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2022-11-25T12:37:20.681719+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.15","user_name":"Chirag Patel","item_type":"entity","text":"Gene: adamts9 has been classified as Amber List (Moderate Evidence).","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2022-11-25T12:36:48.607339+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.14","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ADAMTS9","entity_type":"gene"},{"created":"2022-11-25T12:20:30.129777+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.38","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DCDC2 as Green List (high evidence)","entity_name":"DCDC2","entity_type":"gene"},{"created":"2022-11-25T12:20:30.117771+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.38","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dcdc2 has been classified as Green List (High Evidence).","entity_name":"DCDC2","entity_type":"gene"},{"created":"2022-11-25T12:19:58.778533+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.37","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27469900, 25557784, 31821705; Phenotypes: Nephronophthisis 19, MIM# 616217, Sclerosing cholangitis, neonatal, MIM# 617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCDC2","entity_type":"gene"},{"created":"2022-11-25T12:19:05.629058+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.14","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DCDC2 as Green List (high evidence)","entity_name":"DCDC2","entity_type":"gene"},{"created":"2022-11-25T12:19:05.616847+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.14","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dcdc2 has been classified as Green List (High Evidence).","entity_name":"DCDC2","entity_type":"gene"},{"created":"2022-11-25T12:18:34.519944+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.13","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27469900, 25557784, 31821705; Phenotypes: Nephronophthisis 19, MIM# 616217, Sclerosing cholangitis, neonatal, MIM# 617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCDC2","entity_type":"gene"},{"created":"2022-11-24T18:27:03.529789+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1095","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC18A3 as ready","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2022-11-24T18:27:03.511429+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1095","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc18a3 has been classified as Green List (High Evidence).","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2022-11-24T18:26:57.333715+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1095","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SLC18A3 were set to ","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2022-11-24T18:26:12.658167+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1094","user_name":"Seb Lunke","item_type":"entity","text":"changed review comment from: Established gene-disease association.\r\n\r\nChildhood onset neurological condition.\r\n\r\nTreatment: L-dopa resulted in severe exacerbation of the symptoms. Dopamine receptor agonist (pramipexole) resulted in  improvement in symptoms. Earlier treatment more beneficial. Evidence from single family with benefits shown in 4 affected children. \r\n\r\nNon-genetic confirmatory test: blood pressure measurement and sodium, potassium, aldosterone, renin levels; to: Established gene-disease association.\r\n\r\nChildhood onset neurological condition.\r\n\r\nTreatment: L-dopa resulted in severe exacerbation of the symptoms. Dopamine receptor agonist (pramipexole) resulted in  improvement in symptoms. Earlier treatment more beneficial. Evidence from single family with benefits shown in 4 affected children. \r\n\r\nNon-genetic confirmatory test: whole blood serotonin level","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2022-11-24T18:25:21.615440+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1094","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301347; Phenotypes: Myasthenic syndrome, congenital, 21, presynaptic, MIM#617239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2022-11-24T18:18:22.444748+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1094","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC18A2 as ready","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2022-11-24T18:18:22.437720+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1094","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment when marking as ready: Is evidence for treatment sufficient?","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2022-11-24T18:18:22.387349+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1094","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc18a2 has been classified as Green List (High Evidence).","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2022-11-24T18:17:54.725350+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1094","user_name":"Seb Lunke","item_type":"entity","text":"Tag for review tag was added to gene: SLC18A2.","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2022-11-24T18:17:31.308360+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1094","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23363473; Phenotypes: Parkinsonism-dystonia, infantile, 2, MIM# 618049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2022-11-24T16:02:04.257255+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.11","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: HSD3B2 as Green List (high evidence)","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-11-24T16:02:04.220829+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.11","user_name":"Chirag Patel","item_type":"entity","text":"Gene: hsd3b2 has been classified as Green List (High Evidence).","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-11-24T16:01:16.789555+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.10","user_name":"Chirag Patel","item_type":"entity","text":"gene: HSD3B2 was added\ngene: HSD3B2 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Expert list\nMode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSD3B2 were set to PMID: 1363812, 18252794\nPhenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810\nReview for gene: HSD3B2 was set to GREEN\nAdded comment: Established gene-disease association. \nSources: Expert list","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-11-24T15:57:35.436735+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.9","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CYP21A2 as Green List (high evidence)","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2022-11-24T15:57:35.424167+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.9","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cyp21a2 has been classified as Green List (High Evidence).","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2022-11-24T15:57:02.648870+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.8","user_name":"Chirag Patel","item_type":"entity","text":"gene: CYP21A2 was added\ngene: CYP21A2 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Expert list\nMode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910\nReview for gene: CYP21A2 was set to GREEN\nAdded comment: Well established gene-disease association. Beware pseudogene and structural variants make NGS data difficult to interpret. \nSources: Expert list","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2022-11-24T15:53:43.564914+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.7","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CYP17A1 as Green List (high evidence)","entity_name":"CYP17A1","entity_type":"gene"},{"created":"2022-11-24T15:53:43.552512+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.7","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cyp17a1 has been classified as Green List (High Evidence).","entity_name":"CYP17A1","entity_type":"gene"},{"created":"2022-11-24T15:53:02.766402+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.6","user_name":"Chirag Patel","item_type":"entity","text":"gene: CYP17A1 was added\ngene: CYP17A1 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Expert list\nMode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP17A1 were set to PMID: 2843762, 14671162, 2026124\nPhenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110\nReview for gene: CYP17A1 was set to GREEN\nAdded comment: More than 100 families reported. \nSources: Expert list","entity_name":"CYP17A1","entity_type":"gene"},{"created":"2022-11-24T12:56:23.004593+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1094","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KDM6A as ready","entity_name":"KDM6A","entity_type":"gene"},{"created":"2022-11-24T12:56:22.991624+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1094","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdm6a has been classified as Red List (Low Evidence).","entity_name":"KDM6A","entity_type":"gene"},{"created":"2022-11-24T12:56:19.019318+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1094","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KDM6A were changed from Kabuki syndrome 2 to Kabuki syndrome 2, MIM#300867","entity_name":"KDM6A","entity_type":"gene"},{"created":"2022-11-24T12:55:52.034308+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1093","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KDM6A was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"KDM6A","entity_type":"gene"},{"created":"2022-11-24T12:55:41.582709+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1092","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KDM6A as Red List (low evidence)","entity_name":"KDM6A","entity_type":"gene"},{"created":"2022-11-24T12:55:41.568588+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1092","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdm6a has been classified as Red List (Low Evidence).","entity_name":"KDM6A","entity_type":"gene"},{"created":"2022-11-24T12:55:29.743110+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1091","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KDM6A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 2, 300867; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"KDM6A","entity_type":"gene"},{"created":"2022-11-24T12:54:22.237562+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1091","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF21A as ready","entity_name":"KIF21A","entity_type":"gene"},{"created":"2022-11-24T12:54:22.206514+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1091","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif21a has been classified as Red List (Low Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2022-11-24T12:54:18.765288+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1091","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF21A were changed from Fibrosis Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700of extraocular muscles, congenital to Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700","entity_name":"KIF21A","entity_type":"gene"},{"created":"2022-11-24T12:54:08.464958+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1090","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital to Fibrosis Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700of extraocular muscles, congenital","entity_name":"KIF21A","entity_type":"gene"},{"created":"2022-11-24T12:53:54.690291+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1089","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF21A as Red List (low evidence)","entity_name":"KIF21A","entity_type":"gene"},{"created":"2022-11-24T12:53:54.658685+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1089","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif21a has been classified as Red List (Low Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2022-11-24T12:53:38.741970+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1088","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIF21A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KIF21A","entity_type":"gene"},{"created":"2022-11-24T12:49:19.954353+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1088","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIT as ready","entity_name":"KIT","entity_type":"gene"},{"created":"2022-11-24T12:49:19.940213+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1088","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kit has been classified as Red List (Low Evidence).","entity_name":"KIT","entity_type":"gene"},{"created":"2022-11-24T12:49:16.305769+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1088","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIT were changed from Piebaldism to Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764","entity_name":"KIT","entity_type":"gene"},{"created":"2022-11-24T12:49:04.009072+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1087","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIT as Red List (low evidence)","entity_name":"KIT","entity_type":"gene"},{"created":"2022-11-24T12:49:03.989530+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1087","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kit has been classified as Red List (Low Evidence).","entity_name":"KIT","entity_type":"gene"},{"created":"2022-11-24T12:48:52.342247+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1086","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KIT","entity_type":"gene"},{"created":"2022-11-24T12:43:50.057617+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1086","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLF1 as ready","entity_name":"KLF1","entity_type":"gene"},{"created":"2022-11-24T12:43:50.042901+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1086","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klf1 has been classified as Red List (Low Evidence).","entity_name":"KLF1","entity_type":"gene"},{"created":"2022-11-24T12:43:45.555773+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1086","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLF1 were changed from MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673","entity_name":"KLF1","entity_type":"gene"},{"created":"2022-11-24T12:43:31.916321+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1085","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLF1 as Red List (low evidence)","entity_name":"KLF1","entity_type":"gene"},{"created":"2022-11-24T12:43:31.878442+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1085","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klf1 has been classified as Red List (Low Evidence).","entity_name":"KLF1","entity_type":"gene"},{"created":"2022-11-24T12:43:18.506857+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1084","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KLF1","entity_type":"gene"},{"created":"2022-11-24T12:40:13.528307+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1084","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLHL40 as ready","entity_name":"KLHL40","entity_type":"gene"},{"created":"2022-11-24T12:40:13.516158+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1084","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl40 has been classified as Red List (Low Evidence).","entity_name":"KLHL40","entity_type":"gene"},{"created":"2022-11-24T12:39:28.435617+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1084","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLHL40 were changed from Nemaline myopathy to Nemaline myopathy 8, autosomal recessive, MIM# 615348","entity_name":"KLHL40","entity_type":"gene"},{"created":"2022-11-24T12:39:12.864010+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1083","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLHL40 as Red List (low evidence)","entity_name":"KLHL40","entity_type":"gene"},{"created":"2022-11-24T12:39:12.850306+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1083","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl40 has been classified as Red List (Low Evidence).","entity_name":"KLHL40","entity_type":"gene"},{"created":"2022-11-24T12:38:59.635533+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1082","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLHL40: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 8, autosomal recessive, MIM# 615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLHL40","entity_type":"gene"},{"created":"2022-11-24T12:37:23.426293+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1082","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLHL41 as ready","entity_name":"KLHL41","entity_type":"gene"},{"created":"2022-11-24T12:37:23.411382+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1082","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl41 has been classified as Red List (Low Evidence).","entity_name":"KLHL41","entity_type":"gene"},{"created":"2022-11-24T12:37:18.301784+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1082","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLHL41 were changed from Nemaline myopathy to Nemaline myopathy 9, MIM# 615731","entity_name":"KLHL41","entity_type":"gene"},{"created":"2022-11-24T12:37:03.151271+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1081","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLHL41 as Red List (low evidence)","entity_name":"KLHL41","entity_type":"gene"},{"created":"2022-11-24T12:37:03.139110+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1081","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl41 has been classified as Red List (Low Evidence).","entity_name":"KLHL41","entity_type":"gene"},{"created":"2022-11-24T12:36:50.904562+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1080","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLHL41: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 9, MIM# 615731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLHL41","entity_type":"gene"},{"created":"2022-11-24T10:56:53.487317+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1080","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KAT6B as ready","entity_name":"KAT6B","entity_type":"gene"},{"created":"2022-11-24T10:56:53.475802+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1080","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat6b has been classified as Red List (Low Evidence).","entity_name":"KAT6B","entity_type":"gene"},{"created":"2022-11-24T10:56:46.136170+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1080","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome to SBBYSS syndrome MIM #603736; Genitopatellar syndrome MIM #606170","entity_name":"KAT6B","entity_type":"gene"},{"created":"2022-11-24T10:56:32.397222+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1079","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KAT6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KAT6B","entity_type":"gene"},{"created":"2022-11-24T10:56:22.686686+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1078","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KAT6B as Red List (low evidence)","entity_name":"KAT6B","entity_type":"gene"},{"created":"2022-11-24T10:56:22.666333+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1078","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat6b has been classified as Red List (Low Evidence).","entity_name":"KAT6B","entity_type":"gene"},{"created":"2022-11-24T10:56:11.518191+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1077","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KAT6B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: SBBYSS syndrome MIM #603736, Genitopatellar syndrome MIM #606170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KAT6B","entity_type":"gene"},{"created":"2022-11-24T10:55:29.707333+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KAT6B as ready","entity_name":"KAT6B","entity_type":"gene"},{"created":"2022-11-24T10:55:29.696289+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat6b has been classified as Green List (High Evidence).","entity_name":"KAT6B","entity_type":"gene"},{"created":"2022-11-24T10:55:26.020730+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome to SBBYSS syndrome MIM #603736; Genitopatellar syndrome MIM #606170","entity_name":"KAT6B","entity_type":"gene"},{"created":"2022-11-24T10:55:13.292103+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.275","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KAT6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KAT6B","entity_type":"gene"},{"created":"2022-11-24T10:55:00.996109+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: SBBYSS syndrome MIM #603736, Genitopatellar syndrome MIM #606170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KAT6B","entity_type":"gene"},{"created":"2022-11-24T09:45:10.264377+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1077","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KMT2D as ready","entity_name":"KMT2D","entity_type":"gene"},{"created":"2022-11-24T09:45:10.236154+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1077","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmt2d has been classified as Red List (Low Evidence).","entity_name":"KMT2D","entity_type":"gene"},{"created":"2022-11-24T09:45:04.663833+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1077","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1 to Kabuki syndrome 1, MIM# 147920","entity_name":"KMT2D","entity_type":"gene"},{"created":"2022-11-24T09:44:36.396831+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1076","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KMT2D as Red List (low evidence)","entity_name":"KMT2D","entity_type":"gene"},{"created":"2022-11-24T09:44:36.380597+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1076","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmt2d has been classified as Red List (Low Evidence).","entity_name":"KMT2D","entity_type":"gene"},{"created":"2022-11-24T09:44:25.351256+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1075","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: KMT2D: Well established gene-disease association.\r\n\r\nCongenital onset, multi-system disorder.\r\n\r\nNo specific treatment.","entity_name":"KMT2D","entity_type":"gene"}]}