{"count":220712,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=136","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=134","results":[{"created":"2025-11-12T13:45:08.837870+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3535","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SRRM1 was added\ngene: SRRM1 was added to Mendeliome. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SRRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRRM1 were set to 41145827\nPhenotypes for gene: SRRM1 were set to Neurodevelopmental disorder, MONDO:0700092, SRRM1-related","entity_name":"SRRM1","entity_type":"gene"},{"created":"2025-11-12T13:44:45.727316+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.415","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRRM1 as ready","entity_name":"SRRM1","entity_type":"gene"},{"created":"2025-11-12T13:44:45.717017+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.415","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srrm1 has been classified as Green List (High Evidence).","entity_name":"SRRM1","entity_type":"gene"},{"created":"2025-11-12T13:44:02.290562+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.415","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRRM1 as Green List (high evidence)","entity_name":"SRRM1","entity_type":"gene"},{"created":"2025-11-12T13:44:02.279675+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.415","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srrm1 has been classified as Green List (High Evidence).","entity_name":"SRRM1","entity_type":"gene"},{"created":"2025-11-12T13:43:30.968433+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.414","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SRRM1 was added\ngene: SRRM1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SRRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRRM1 were set to 41145827\nPhenotypes for gene: SRRM1 were set to Neurodevelopmental disorder, MONDO:0700092, SRRM1-related\nReview for gene: SRRM1 was set to GREEN\nAdded comment: PMID 41145827 reports three individuals from three unrelated families with heterozygous truncating SRRM1 variants presenting with a neurodevelopmental disorder characterised by developmental delay, intellectual disability, short stature, behavioural and skeletal anomalies, and facial dysmorphism. Two variants are confirmed de novo and functional assays in neuronal‑like cells and Drosophila support haploinsufficiency as a disease mechanism.\r\n\r\nSerine/arginine repetitive matrix protein 1 (SRRM1) is a key component of spliceosomes and plays various roles in messenger RNA processing. \nSources: Literature","entity_name":"SRRM1","entity_type":"gene"},{"created":"2025-11-12T10:48:14.718431+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3534","user_name":"Rylee Peters","item_type":"entity","text":"Tag disputed tag was added to gene: ZNF81.","entity_name":"ZNF81","entity_type":"gene"},{"created":"2025-11-12T09:15:03.452409+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.413","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SGSM3 were changed from Neurodevelopmental disorder (MONDO:0700092), SGSM3-related to Intellectual developmental disorder, autosomal recessive 84, MIM#\t620401","entity_name":"SGSM3","entity_type":"gene"},{"created":"2025-11-12T09:14:26.312883+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.412","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SGSM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 84, MIM# 620401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SGSM3","entity_type":"gene"},{"created":"2025-11-12T09:14:00.935398+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3534","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SGSM3 were changed from Neurodevelopmental disorder (MONDO:0700092), SGSM3-related to Intellectual developmental disorder, autosomal recessive 84, MIM#\t620401","entity_name":"SGSM3","entity_type":"gene"},{"created":"2025-11-12T09:13:38.182954+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3533","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SGSM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 84, MIM# 620401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SGSM3","entity_type":"gene"},{"created":"2025-11-11T22:17:40.743820+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3533","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: EPB41 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"EPB41","entity_type":"gene"},{"created":"2025-11-11T22:13:11.017468+11:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"1.9","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on mode of inheritance: No evidence of monoallelic association in the literature","entity_name":"KHDC3L","entity_type":"gene"},{"created":"2025-11-11T22:13:10.988151+11:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"1.9","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: KHDC3L was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KHDC3L","entity_type":"gene"},{"created":"2025-11-11T22:11:59.389377+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3532","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on mode of inheritance: No evidence of monoallelic association in the literature","entity_name":"KHDC3L","entity_type":"gene"},{"created":"2025-11-11T22:11:59.186960+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3532","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: KHDC3L was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KHDC3L","entity_type":"gene"},{"created":"2025-11-11T21:59:10.898897+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3531","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: EIF4A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2025-11-11T21:49:46.994147+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3530","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: EGR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"EGR2","entity_type":"gene"},{"created":"2025-11-11T15:32:11.036852+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3529","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005786; Phenotypes: Neurometabolic disorder due to serine deficiency MONDO:0018162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PHGDH","entity_type":"gene"},{"created":"2025-11-11T13:42:44.534614+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RHOA were changed from normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia to Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, MIM# 618727","entity_name":"RHOA","entity_type":"gene"},{"created":"2025-11-11T13:42:16.527924+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RHOA were set to 31570889","entity_name":"RHOA","entity_type":"gene"},{"created":"2025-11-11T13:41:41.042012+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.50","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 40414526; Phenotypes: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, MIM# 618727; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RHOA","entity_type":"gene"},{"created":"2025-11-11T13:40:32.186624+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3529","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RHOA were changed from normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia; dental anomalies; body asymmetry; limb length discrepancy to Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, MIM# 618727","entity_name":"RHOA","entity_type":"gene"},{"created":"2025-11-11T13:40:14.077334+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3528","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RHOA were set to 31570889; 31821646","entity_name":"RHOA","entity_type":"gene"},{"created":"2025-11-11T13:39:53.070959+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3527","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RHOA: Changed phenotypes: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, MIM# 618727","entity_name":"RHOA","entity_type":"gene"},{"created":"2025-11-11T13:39:26.942555+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3527","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RHOA: Added comment: PMID 40414526: non-mosaic individual reported.; Changed publications: 31821646, 40414526","entity_name":"RHOA","entity_type":"gene"},{"created":"2025-11-11T13:34:19.548125+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.366","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TARDBP as ready","entity_name":"TARDBP","entity_type":"gene"},{"created":"2025-11-11T13:34:19.539367+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.366","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tardbp has been classified as Green List (High Evidence).","entity_name":"TARDBP","entity_type":"gene"},{"created":"2025-11-11T13:34:17.349990+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.366","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TARDBP were changed from  to Amyotrophic lateral sclerosis 10, with or without FTD; Frontotemporal lobar degeneration, TARDBP-related (MIM#612069; MONDO: 0012790)","entity_name":"TARDBP","entity_type":"gene"},{"created":"2025-11-11T13:33:56.941570+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.365","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TARDBP were set to ","entity_name":"TARDBP","entity_type":"gene"},{"created":"2025-11-11T13:33:34.779723+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.364","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TARDBP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TARDBP","entity_type":"gene"},{"created":"2025-11-11T13:32:27.585522+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.363","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPG11 as ready","entity_name":"SPG11","entity_type":"gene"},{"created":"2025-11-11T13:32:27.577014+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.363","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spg11 has been classified as Green List (High Evidence).","entity_name":"SPG11","entity_type":"gene"},{"created":"2025-11-11T13:32:24.431896+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.363","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPG11 were changed from  to Amyotrophic lateral sclerosis 5, juvenile, MIM# 602099","entity_name":"SPG11","entity_type":"gene"},{"created":"2025-11-11T13:31:57.343771+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.362","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPG11 were set to ","entity_name":"SPG11","entity_type":"gene"},{"created":"2025-11-11T13:31:30.422223+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.361","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SPG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPG11","entity_type":"gene"},{"created":"2025-11-11T09:52:25.829301+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.359","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CARS as ready","entity_name":"CARS","entity_type":"gene"},{"created":"2025-11-11T09:52:25.821877+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.359","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cars has been classified as Green List (High Evidence).","entity_name":"CARS","entity_type":"gene"},{"created":"2025-11-11T09:52:21.159217+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.359","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CARS.","entity_name":"CARS","entity_type":"gene"},{"created":"2025-11-11T09:52:03.469545+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.359","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene CARS from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-11T09:52:03.210978+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.359","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CARS was added\ngene: CARS was added to Microcephaly. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CARS were set to 41121266; 39963003; 30824121\nPhenotypes for gene: CARS were set to Microcephaly, developmental delay, and brittle hair syndrome, MIM# 618891","entity_name":"CARS","entity_type":"gene"},{"created":"2025-11-11T09:51:40.920270+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3527","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CARS.","entity_name":"CARS","entity_type":"gene"},{"created":"2025-11-11T09:50:55.920042+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3527","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CARS were changed from Intellectual disability; microcephaly; brittle hair and nails to Microcephaly, developmental delay, and brittle hair syndrome, MIM# 618891","entity_name":"CARS","entity_type":"gene"},{"created":"2025-11-11T09:50:38.702745+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3526","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CARS were set to PMID: 30824121","entity_name":"CARS","entity_type":"gene"},{"created":"2025-11-11T09:50:19.970190+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3525","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 41121266, 39963003, 30824121; Phenotypes: Microcephaly, developmental delay, and brittle hair syndrome, MIM# 618891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CARS","entity_type":"gene"},{"created":"2025-11-11T09:45:51.994913+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.412","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CARS as ready","entity_name":"CARS","entity_type":"gene"},{"created":"2025-11-11T09:45:51.990147+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.412","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: New gene name is CARS1.","entity_name":"CARS","entity_type":"gene"},{"created":"2025-11-11T09:45:51.958007+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.412","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cars has been classified as Green List (High Evidence).","entity_name":"CARS","entity_type":"gene"},{"created":"2025-11-11T09:45:36.072762+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.412","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CARS.","entity_name":"CARS","entity_type":"gene"},{"created":"2025-11-10T19:01:23.844379+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.454","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL12A1 as ready","entity_name":"COL12A1","entity_type":"gene"},{"created":"2025-11-10T19:01:23.841075+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.454","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: More severe end of the phenotype associated with biallelic disease is associated with arthrogryposis.","entity_name":"COL12A1","entity_type":"gene"},{"created":"2025-11-10T19:01:23.823979+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.454","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col12a1 has been classified as Green List (High Evidence).","entity_name":"COL12A1","entity_type":"gene"},{"created":"2025-11-10T19:00:59.437833+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.454","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL12A1 were changed from  to Ullrich congenital muscular dystrophy 2 , MIM# 616470","entity_name":"COL12A1","entity_type":"gene"},{"created":"2025-11-10T19:00:29.329380+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.453","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL12A1 were set to ","entity_name":"COL12A1","entity_type":"gene"},{"created":"2025-11-10T19:00:03.284043+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.452","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL12A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL12A1","entity_type":"gene"},{"created":"2025-11-10T18:56:24.173724+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.451","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene COL12A1 from panel Muscular dystrophy and myopathy_Paediatric","entity_name":null,"entity_type":null},{"created":"2025-11-10T18:54:12.643457+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.450","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNE as ready","entity_name":"CHRNE","entity_type":"gene"},{"created":"2025-11-10T18:54:12.636216+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.450","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrne has been classified as Amber List (Moderate Evidence).","entity_name":"CHRNE","entity_type":"gene"},{"created":"2025-11-10T18:48:48.524400+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.450","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRNE were changed from  to Congenital myasthenic syndrome 4, MONDO:1040021","entity_name":"CHRNE","entity_type":"gene"},{"created":"2025-11-10T18:47:59.920280+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHRNE were set to ","entity_name":"CHRNE","entity_type":"gene"},{"created":"2025-11-10T18:47:36.493351+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.448","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHRNE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNE","entity_type":"gene"},{"created":"2025-11-10T18:47:09.795453+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.447","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHRNE as Amber List (moderate evidence)","entity_name":"CHRNE","entity_type":"gene"},{"created":"2025-11-10T18:47:09.787500+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.447","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrne has been classified as Amber List (Moderate Evidence).","entity_name":"CHRNE","entity_type":"gene"},{"created":"2025-11-10T18:46:40.427337+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.446","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRNE: Rating: AMBER; Mode of pathogenicity: None; Publications: 33193787; Phenotypes: Congenital myasthenic syndrome 4, MONDO:1040021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNE","entity_type":"gene"},{"created":"2025-11-10T18:32:40.463125+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.446","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene CHRND from panel Hydrops fetalis","entity_name":null,"entity_type":null},{"created":"2025-11-10T18:31:02.266190+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.445","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNA1 as ready","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2025-11-10T18:31:02.258223+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.445","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrna1 has been classified as Green List (High Evidence).","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2025-11-10T18:30:58.589927+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.445","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRNA1 were changed from  to Multiple pterygium syndrome, lethal type, MIM# 253290","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2025-11-10T18:30:36.058828+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.444","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHRNA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2025-11-10T18:30:13.832116+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.443","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Typically presents with cystic hygroma/hydrops.; to: Typically presents with cystic hygroma/hydrops, contractures are part of the phenotype.","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2025-11-10T18:29:46.682407+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.443","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene CHRNA1 from panel Hydrops fetalis","entity_name":null,"entity_type":null},{"created":"2025-11-09T16:29:26.700316+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.466","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAN2 were changed from Syndromic disease MONDO:0002254 to Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM# 621384","entity_name":"PAN2","entity_type":"gene"},{"created":"2025-11-09T16:29:08.454069+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.465","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PAN2: Changed phenotypes: Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM# 621384","entity_name":"PAN2","entity_type":"gene"},{"created":"2025-11-09T16:28:49.945424+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.412","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAN2 were changed from Syndromic disease MONDO:0002254 to Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM# 621384","entity_name":"PAN2","entity_type":"gene"},{"created":"2025-11-09T16:28:22.339991+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.411","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM# 621384; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PAN2","entity_type":"gene"},{"created":"2025-11-09T16:27:55.866878+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3525","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAN2 were changed from Syndromic disease MONDO:0002254, PAN2-related to Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM# 621384","entity_name":"PAN2","entity_type":"gene"},{"created":"2025-11-09T16:27:36.002512+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3524","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PAN2: Changed phenotypes: Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM# 621384","entity_name":"PAN2","entity_type":"gene"},{"created":"2025-11-09T16:27:18.231797+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAN2 were changed from Syndromic disease MONDO:0002254 to Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM# 621384","entity_name":"PAN2","entity_type":"gene"},{"created":"2025-11-09T16:26:47.527796+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.474","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM# 621384; Mode of inheritance: None","entity_name":"PAN2","entity_type":"gene"},{"created":"2025-11-09T16:26:25.168691+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAN2 were changed from Syndromic disease MONDO:0002254 to Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM#\t621384","entity_name":"PAN2","entity_type":"gene"},{"created":"2025-11-09T16:25:49.738723+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PAN2: Changed phenotypes: Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM# 621384","entity_name":"PAN2","entity_type":"gene"},{"created":"2025-11-09T16:25:20.134560+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL27RA were changed from Epstein-Barr virus infection MONDO:0005111  , IL27RA-related to Immunodeficiency 134 (Epstein-Barr virus-specific), MIM# 621405","entity_name":"IL27RA","entity_type":"gene"},{"created":"2025-11-09T16:24:48.328248+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IL27RA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 134 (Epstein-Barr virus-specific), MIM# 621405; Mode of inheritance: None","entity_name":"IL27RA","entity_type":"gene"},{"created":"2025-11-09T16:24:33.737041+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL27RA were changed from Epstein-Barr virus infection MONDO:0005111 , IL27RA-related to Immunodeficiency 134 (Epstein-Barr virus-specific), MIM# 621405","entity_name":"IL27RA","entity_type":"gene"},{"created":"2025-11-09T16:23:59.680807+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IL27RA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 134 (Epstein-Barr virus-specific), MIM# 621405; Mode of inheritance: None","entity_name":"IL27RA","entity_type":"gene"},{"created":"2025-11-09T16:23:39.715952+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3524","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL27RA were changed from Epstein-Barr virus infection MONDO:0005111 , IL27RA-related to Immunodeficiency 134 (Epstein-Barr virus-specific), MIM# 621405","entity_name":"IL27RA","entity_type":"gene"},{"created":"2025-11-09T16:23:17.222429+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3523","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IL27RA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 134 (Epstein-Barr virus-specific), MIM# 621405; Mode of inheritance: None","entity_name":"IL27RA","entity_type":"gene"},{"created":"2025-11-07T13:30:53.810118+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene RRP12 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-07T13:30:53.546292+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RRP12 was added\ngene: RRP12 was added to Brain Calcification. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: RRP12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RRP12 were set to PMID: 41059649\nPhenotypes for gene: RRP12 were set to Syndromic disease, MONDO:0002254, RRP12-related; Brain calcifications\nPenetrance for gene: RRP12 were set to unknown","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-07T13:29:48.046275+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3523","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RRP12 as ready","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-07T13:29:48.033908+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3523","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rrp12 has been classified as Amber List (Moderate Evidence).","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-07T13:29:39.252286+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3523","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RRP12 were changed from Brain calcifications to Syndromic disease, MONDO:0002254, RRP12-related; Brain calcifications","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-07T13:28:56.864946+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3522","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: RRP12 was changed from Other to None","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-07T13:28:46.362995+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3521","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RRP12 as Amber List (moderate evidence)","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-07T13:28:46.350041+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3521","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rrp12 has been classified as Amber List (Moderate Evidence).","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-07T11:42:33.818900+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3520","user_name":"Catherine Dalzell","item_type":"entity","text":"gene: RRP12 was added\ngene: RRP12 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RRP12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RRP12 were set to PMID: 41059649\nPhenotypes for gene: RRP12 were set to Brain calcifications\nPenetrance for gene: RRP12 were set to unknown\nMode of pathogenicity for gene: RRP12 was set to Other\nReview for gene: RRP12 was set to AMBER\nAdded comment: Variants: 5 individuals from 3 unrelated families with homozygous RRP12 variants (3 different variants, 2 consanguineous families with same variant, 2 siblings with same variant).\r\n\r\nPhenotype: all individuals had brain calcifications (varying distribution, severity and age of onset). The patients from the two consanguineous families both had infantile-onset generalised dystonia, spasticity and severe speech impairment with widespread brain calcifications. One also had microcephaly, seizures and a cataract whilst the other had mild thrombocytopenia. The two siblings had psychiatric symptoms (one bipolar disease and one anxiety) with marked, bilateral symmetric calcifications. One also had cerebellar ataxia, choreic movements, cognitive impairment and subtle Parkinsonism whilst the other had chronic tinnitus. The final individual had dizziness and only faint bilateral lenticular calcifications.\r\n\r\nFunctional data: a statistically significant reduction in RRP12 protein levels in probands’ fibroblasts compared to controls was demonstrated. rrp12 knockdown in zebrafish embryos demonstrated reduced survival (50% survival at 2 days and maximum survival of 6 days compared to 100% survival at 6 days in controls). Phenotype abnormalities (delayed development and crimping) were also seen in the rrp12 knockdown embryos. Functional studies support a possible LoF mechanism. \nSources: Literature","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-07T09:54:23.694845+11:00","panel_name":"Vascular Malformations SuperPanel","panel_id":3731,"panel_version":"1.69","user_name":"Bryony Thompson","item_type":"panel","text":"Changed child panels to: Vascular Malformations_Somatic; Mosaic skin disorders; Vascular Malformations_Germline; Cerebral vascular malformations; Lymphoedema_nonsyndromic; Lymphoedema_syndromic","entity_name":null,"entity_type":null},{"created":"2025-11-05T12:22:42.462512+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.411","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAF2 were changed from Mental retardation, autosomal recessive 40, MIM# 615599 to Intellectual development disorder, autosomal recessive 40, MIM# 615599","entity_name":"TAF2","entity_type":"gene"},{"created":"2025-11-05T12:22:12.539022+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.410","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TAF2: Changed phenotypes: Intellectual development disorder, autosomal recessive 40, MIM# 615599","entity_name":"TAF2","entity_type":"gene"},{"created":"2025-11-05T12:21:52.439795+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.358","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAF2 were changed from Mental retardation, autosomal recessive 40, MIM# 615599 to Intellectual development disorder, autosomal recessive 40, MIM# 615599","entity_name":"TAF2","entity_type":"gene"}]}