{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=61","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=59","results":[{"created":"2026-01-12T17:18:50.241617+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.82","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGW as Green List (high evidence)","entity_name":"PIGW","entity_type":"gene"},{"created":"2026-01-12T17:18:50.232034+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigw has been classified as Green List (High Evidence).","entity_name":"PIGW","entity_type":"gene"},{"created":"2026-01-12T17:18:12.519157+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.81","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIGW: Added comment: Additional cases reported that were not included in the ClinGen assessment, upgraded to Green.; Changed rating: GREEN; Changed publications: 40180615, 39924787, 39766333, 38055078","entity_name":"PIGW","entity_type":"gene"},{"created":"2026-01-12T17:09:39.174957+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.509","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ESRP2 were changed from Cleft lip to Orofacial cleft MONDO:0000358, ESRP2-related","entity_name":"ESRP2","entity_type":"gene"},{"created":"2026-01-12T17:09:26.947868+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.508","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ESRP2 were set to 29805042","entity_name":"ESRP2","entity_type":"gene"},{"created":"2026-01-12T17:09:02.209371+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.507","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ESRP2 as Green List (high evidence)","entity_name":"ESRP2","entity_type":"gene"},{"created":"2026-01-12T17:09:02.202848+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.507","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: esrp2 has been classified as Green List (High Evidence).","entity_name":"ESRP2","entity_type":"gene"},{"created":"2026-01-12T17:08:51.425326+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.506","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ESRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39179789; Phenotypes: Orofacial cleft MONDO:0000358, ESRP2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ESRP2","entity_type":"gene"},{"created":"2026-01-12T17:08:00.233266+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.307","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ESRP2 were changed from cleft lip; Cleft palate, MONDO:0016064; Hypopituitarism MONDO:0005152 to Orofacial cleft MONDO:0000358, ESRP2-related","entity_name":"ESRP2","entity_type":"gene"},{"created":"2026-01-12T17:07:44.693537+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.306","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ESRP2: Changed phenotypes: Orofacial cleft MONDO:0000358, ESRP2-related","entity_name":"ESRP2","entity_type":"gene"},{"created":"2026-01-12T17:07:27.322734+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.306","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ESRP2 were set to 29805042","entity_name":"ESRP2","entity_type":"gene"},{"created":"2026-01-12T17:07:08.451595+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.305","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ESRP2 as Green List (high evidence)","entity_name":"ESRP2","entity_type":"gene"},{"created":"2026-01-12T17:07:08.444599+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.305","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: esrp2 has been classified as Green List (High Evidence).","entity_name":"ESRP2","entity_type":"gene"},{"created":"2026-01-12T17:06:58.831782+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.304","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ESRP2: Added comment: Further functional work on some of the variants in PMID 39179789.; Changed rating: GREEN; Changed publications: 29805042, 39179789","entity_name":"ESRP2","entity_type":"gene"},{"created":"2026-01-12T15:00:20.612355+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4048","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ESRP2 were changed from Orofacial cleft MONDO:0000358 to Orofacial cleft MONDO:0000358, ESRP2-related","entity_name":"ESRP2","entity_type":"gene"},{"created":"2026-01-12T14:59:54.770612+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4047","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ESRP2 were set to 29805042","entity_name":"ESRP2","entity_type":"gene"},{"created":"2026-01-12T14:59:25.868031+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4046","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ESRP2 as Green List (high evidence)","entity_name":"ESRP2","entity_type":"gene"},{"created":"2026-01-12T14:59:25.859829+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4046","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: esrp2 has been classified as Green List (High Evidence).","entity_name":"ESRP2","entity_type":"gene"},{"created":"2026-01-12T14:59:10.268684+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4045","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ESRP2: Added comment: Further functional work on some of the variants in PMID 39179789.; Changed rating: GREEN; Changed publications: 29805042, 39179789","entity_name":"ESRP2","entity_type":"gene"},{"created":"2026-01-12T11:46:34.398743+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.574","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37439-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T11:46:33.986751+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.574","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37439-Gain was added\nRegion: ISCA-37439-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37439-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for Region: ISCA-37439-Gain were set to PMID: 20004760\nPhenotypes for Region: ISCA-37439-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815","entity_name":"ISCA-37439-Gain","entity_type":"region"},{"created":"2026-01-12T11:40:24.871826+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.573","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37434-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T11:40:24.406572+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.573","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37434-Loss was added\nRegion: ISCA-37434-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432\nPhenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies","entity_name":"ISCA-37434-Loss","entity_type":"region"},{"created":"2026-01-12T11:39:42.648086+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.340","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37434-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T11:39:42.381270+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.340","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37434-Loss was added\nRegion: ISCA-37434-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432\nPhenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies","entity_name":"ISCA-37434-Loss","entity_type":"region"},{"created":"2026-01-12T11:38:49.263696+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.316","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37434-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T11:38:49.082300+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.316","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37434-Loss was added\nRegion: ISCA-37434-Loss was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432\nPhenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies","entity_name":"ISCA-37434-Loss","entity_type":"region"},{"created":"2026-01-12T11:38:11.007045+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.520","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37434-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T11:38:10.830048+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.520","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37434-Loss was added\nRegion: ISCA-37434-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432\nPhenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies","entity_name":"ISCA-37434-Loss","entity_type":"region"},{"created":"2026-01-12T10:37:38.671145+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.136","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2026-01-12T10:37:11.287256+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.135","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2026-01-12T10:36:47.482766+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.572","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2026-01-12T10:36:07.218201+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.571","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2026-01-12T10:35:31.487408+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.583","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2026-01-12T10:35:04.983393+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.582","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2026-01-12T10:34:36.767803+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.339","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2026-01-12T10:34:01.032865+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.338","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2026-01-12T10:33:41.084112+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4045","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2026-01-12T10:33:00.832291+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4044","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2026-01-12T10:10:32.924642+11:00","panel_name":"Severe Combined Immunodeficiency","panel_id":235,"panel_version":"1.28","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T10:10:32.738510+11:00","panel_name":"Severe Combined Immunodeficiency","panel_id":235,"panel_version":"1.28","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37433-Loss was added\nRegion: ISCA-37433-Loss was added to Severe Combined Immunodeficiency. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400","entity_name":"ISCA-37433-Loss","entity_type":"region"},{"created":"2026-01-12T10:09:51.805934+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.571","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T10:09:48.487209+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.571","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37433-Loss was added\nRegion: ISCA-37433-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400","entity_name":"ISCA-37433-Loss","entity_type":"region"},{"created":"2026-01-12T10:09:08.530514+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.338","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T10:09:08.220561+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.338","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37433-Loss was added\nRegion: ISCA-37433-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400","entity_name":"ISCA-37433-Loss","entity_type":"region"},{"created":"2026-01-12T10:08:16.275177+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.519","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T10:08:16.022274+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.519","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37433-Loss was added\nRegion: ISCA-37433-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400","entity_name":"ISCA-37433-Loss","entity_type":"region"},{"created":"2026-01-12T10:07:36.477081+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.304","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T10:07:36.395115+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.304","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37433-Loss was added\nRegion: ISCA-37433-Loss was added to Clefting disorders. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400","entity_name":"ISCA-37433-Loss","entity_type":"region"},{"created":"2026-01-12T09:59:32.606702+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.570","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37433-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:59:32.220042+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.570","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37433-Gain was added\nRegion: ISCA-37433-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37433-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37433-Gain were set to PMID: 18707033\nPhenotypes for Region: ISCA-37433-Gain were set to Chromosome 22q11.2 microduplication syndrome\tMIM#608363","entity_name":"ISCA-37433-Gain","entity_type":"region"},{"created":"2026-01-12T09:58:42.471933+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.104","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37432-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:58:42.273192+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.104","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37432-Loss was added\nRegion: ISCA-37432-Loss was added to Renal Macrocystic Disease. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37432-Loss were set to PMID: 19844256\nPhenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome\tMIM#614527; Renal cysts and diabetes (RCAD) syndrome","entity_name":"ISCA-37432-Loss","entity_type":"region"},{"created":"2026-01-12T09:58:02.194683+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.158","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37432-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:58:02.085291+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.158","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37432-Loss was added\nRegion: ISCA-37432-Loss was added to Monogenic Diabetes. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37432-Loss were set to PMID: 19844256\nPhenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome\tMIM#614527; Renal cysts and diabetes (RCAD) syndrome","entity_name":"ISCA-37432-Loss","entity_type":"region"},{"created":"2026-01-12T09:57:58.919309+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.569","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37432-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:57:58.580019+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.569","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37432-Loss was added\nRegion: ISCA-37432-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37432-Loss were set to PMID: 19844256\nPhenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome\tMIM#614527; Renal cysts and diabetes (RCAD) syndrome","entity_name":"ISCA-37432-Loss","entity_type":"region"},{"created":"2026-01-12T09:56:35.395072+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.97","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37432-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:56:35.235375+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.97","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37432-Loss was added\nRegion: ISCA-37432-Loss was added to Ciliopathies. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37432-Loss were set to PMID: 19844256\nPhenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome\tMIM#614527; Renal cysts and diabetes (RCAD) syndrome","entity_name":"ISCA-37432-Loss","entity_type":"region"},{"created":"2026-01-12T09:55:56.855670+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"1.6","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37432-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:55:56.612573+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"1.6","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37432-Loss was added\nRegion: ISCA-37432-Loss was added to Cholestasis. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37432-Loss were set to PMID: 19844256\nPhenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome\tMIM#614527; Renal cysts and diabetes (RCAD) syndrome","entity_name":"ISCA-37432-Loss","entity_type":"region"},{"created":"2026-01-12T09:52:37.529702+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.395","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37432-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:52:37.354130+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.395","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37432-Gain was added\nRegion: ISCA-37432-Gain was added to Microcephaly. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37432-Gain were set to PMID: 19844256\nPhenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome\t614526; intellectual disability; seizures; congenital anomalies","entity_name":"ISCA-37432-Gain","entity_type":"region"},{"created":"2026-01-12T09:51:58.396565+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.568","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37432-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:51:55.102405+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.568","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37432-Gain was added\nRegion: ISCA-37432-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37432-Gain were set to PMID: 19844256\nPhenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome\t614526; intellectual disability; seizures; congenital anomalies","entity_name":"ISCA-37432-Gain","entity_type":"region"},{"created":"2026-01-12T09:50:53.146832+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.337","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37432-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:50:52.406300+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.337","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37432-Gain was added\nRegion: ISCA-37432-Gain was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37432-Gain were set to PMID: 19844256\nPhenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome\t614526; intellectual disability; seizures; congenital anomalies","entity_name":"ISCA-37432-Gain","entity_type":"region"},{"created":"2026-01-12T09:48:58.182204+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.582","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37432-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:48:57.918019+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.582","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37432-Gain was added\nRegion: ISCA-37432-Gain was added to Callosome. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37432-Gain were set to PMID: 19844256\nPhenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome\t614526; intellectual disability; seizures; congenital anomalies","entity_name":"ISCA-37432-Gain","entity_type":"region"},{"created":"2026-01-12T09:39:55.257775+11:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"1.1","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:39:55.185746+11:00","panel_name":"Sarcoma soft tissue","panel_id":4358,"panel_version":"1.1","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37431-Loss was added\nRegion: ISCA-37431-Loss was added to Sarcoma soft tissue. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37431-Loss were set to 12660952; 14729829\nPhenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome","entity_name":"ISCA-37431-Loss","entity_type":"region"},{"created":"2026-01-12T09:39:55.062835+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.112","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:39:54.896340+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.112","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37431-Loss was added\nRegion: ISCA-37431-Loss was added to Rasopathy. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37431-Loss were set to 12660952; 14729829\nPhenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome","entity_name":"ISCA-37431-Loss","entity_type":"region"},{"created":"2026-01-12T09:39:17.248826+11:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"1.2","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:39:17.182598+11:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"1.2","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37431-Loss was added\nRegion: ISCA-37431-Loss was added to Paraganglioma_phaeochromocytoma. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37431-Loss were set to 12660952; 14729829\nPhenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome","entity_name":"ISCA-37431-Loss","entity_type":"region"},{"created":"2026-01-12T09:39:17.074894+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.161","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:39:16.916659+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.161","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37431-Loss was added\nRegion: ISCA-37431-Loss was added to Macrocephaly_Megalencephaly. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37431-Loss were set to 12660952; 14729829\nPhenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome","entity_name":"ISCA-37431-Loss","entity_type":"region"},{"created":"2026-01-12T09:38:37.357884+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.567","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:38:36.925942+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.567","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37431-Loss was added\nRegion: ISCA-37431-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37431-Loss were set to 12660952; 14729829\nPhenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome","entity_name":"ISCA-37431-Loss","entity_type":"region"},{"created":"2026-01-12T09:37:54.557373+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.133","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:37:54.401563+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.133","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37431-Loss was added\nRegion: ISCA-37431-Loss was added to Hydrocephalus_Ventriculomegaly. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37431-Loss were set to 12660952; 14729829\nPhenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome","entity_name":"ISCA-37431-Loss","entity_type":"region"},{"created":"2026-01-12T09:37:15.554387+11:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"1.1","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:37:15.488137+11:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"1.1","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37431-Loss was added\nRegion: ISCA-37431-Loss was added to Facial papules. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37431-Loss were set to 12660952; 14729829\nPhenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome","entity_name":"ISCA-37431-Loss","entity_type":"region"},{"created":"2026-01-12T09:37:15.386228+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.518","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:37:15.210537+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.518","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37431-Loss was added\nRegion: ISCA-37431-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37431-Loss were set to 12660952; 14729829\nPhenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome","entity_name":"ISCA-37431-Loss","entity_type":"region"},{"created":"2026-01-12T09:36:37.968682+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"1.10","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:36:37.832635+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"1.10","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37431-Loss was added\nRegion: ISCA-37431-Loss was added to Cerebral vascular malformations. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37431-Loss were set to 12660952; 14729829\nPhenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome","entity_name":"ISCA-37431-Loss","entity_type":"region"},{"created":"2026-01-12T09:36:25.060643+11:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.133","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:36:24.899097+11:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.133","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37431-Loss was added\nRegion: ISCA-37431-Loss was added to Cancer Predisposition_Paediatric. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37431-Loss were set to 12660952; 14729829\nPhenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome","entity_name":"ISCA-37431-Loss","entity_type":"region"},{"created":"2026-01-12T09:35:45.552745+11:00","panel_name":"Breast Cancer","panel_id":4375,"panel_version":"1.19","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:35:45.483555+11:00","panel_name":"Breast Cancer","panel_id":4375,"panel_version":"1.19","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37431-Loss was added\nRegion: ISCA-37431-Loss was added to Breast Cancer. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37431-Loss were set to 12660952; 14729829\nPhenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome","entity_name":"ISCA-37431-Loss","entity_type":"region"},{"created":"2026-01-12T09:35:45.349615+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.237","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:35:44.997908+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.237","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37431-Loss was added\nRegion: ISCA-37431-Loss was added to Autism. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37431-Loss were set to 12660952; 14729829\nPhenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome","entity_name":"ISCA-37431-Loss","entity_type":"region"},{"created":"2026-01-12T09:30:33.201310+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.394","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:30:33.024678+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.394","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37430-Loss was added\nRegion: ISCA-37430-Loss was added to Microcephaly. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM#\t247200","entity_name":"ISCA-37430-Loss","entity_type":"region"},{"created":"2026-01-12T09:29:51.299072+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.29","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:29:51.097063+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.29","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37430-Loss was added\nRegion: ISCA-37430-Loss was added to Lissencephaly and Band Heterotopia. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM#\t247200","entity_name":"ISCA-37430-Loss","entity_type":"region"},{"created":"2026-01-12T09:29:11.124844+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.566","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-12T09:29:10.687348+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.566","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37430-Loss was added\nRegion: ISCA-37430-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM#\t247200","entity_name":"ISCA-37430-Loss","entity_type":"region"},{"created":"2026-01-12T09:28:29.232758+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.506","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null}]}