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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=61",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&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
}
]
}