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"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=88",
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"results": [
{
"created": "2025-12-16T13:17:54.759254+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.503",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37418-Loss was added\nRegion: ISCA-37418-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,ClinGen,NHS GMS\nMode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; Smith-Magenis syndrome; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; 182290; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders",
"entity_name": "ISCA-37418-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T13:17:14.514160+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.145",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37418-Loss from panel Skeletal dysplasia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T13:17:14.471219+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.145",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37418-Loss was added\nRegion: ISCA-37418-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review Green,ClinGen,NHS GMS\nMode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; Smith-Magenis syndrome; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; 182290; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders",
"entity_name": "ISCA-37418-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T13:16:54.114918+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.364",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed Region: ISCA-37418-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301487, 37628566; Phenotypes: Smith-Magenis syndrome, MIM#182290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ISCA-37418-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T13:13:29.289583+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.502",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37418-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T13:13:26.182842+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.502",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37418-Gain was added\nRegion: ISCA-37418-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37418-Gain were set to Potocki-Lupski syndrome, MIM#\t610883; intellectual disability; hypotonia; congenital anomalies",
"entity_name": "ISCA-37418-Gain",
"entity_type": "region"
},
{
"created": "2025-12-16T13:12:44.471249+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.511",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37418-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T13:12:44.306237+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.511",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37418-Gain was added\nRegion: ISCA-37418-Gain was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37418-Gain were set to Potocki-Lupski syndrome, MIM#\t610883; intellectual disability; hypotonia; congenital anomalies",
"entity_name": "ISCA-37418-Gain",
"entity_type": "region"
},
{
"created": "2025-12-16T13:09:56.290289+11:00",
"panel_name": "Ichthyosis and Porokeratosis",
"panel_id": 124,
"panel_version": "1.23",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37417-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T13:09:56.145382+11:00",
"panel_name": "Ichthyosis and Porokeratosis",
"panel_id": 124,
"panel_version": "1.23",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37417-Loss was added\nRegion: ISCA-37417-Loss was added to Ichthyosis and Porokeratosis. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for Region: ISCA-37417-Loss were set to Ichthyosis, X-linked, MIM#\t308100",
"entity_name": "ISCA-37417-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T13:06:46.127248+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.501",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37415-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T13:06:45.797083+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.501",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37415-Gain was added\nRegion: ISCA-37415-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37415-Gain.\nMode of inheritance for Region: ISCA-37415-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37415-Gain were set to 30287593\nPhenotypes for Region: ISCA-37415-Gain were set to 16p13.11 microduplication syndrome; intellectual disability; autism; aortopathy",
"entity_name": "ISCA-37415-Gain",
"entity_type": "region"
},
{
"created": "2025-12-16T13:05:08.872272+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.500",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37411-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T13:05:08.434259+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.500",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37411-Loss was added\nRegion: ISCA-37411-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37411-Loss.\nMode of inheritance for Region: ISCA-37411-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for Region: ISCA-37411-Loss were set to 19372089; 20979196\nPhenotypes for Region: ISCA-37411-Loss were set to Chromosome 15q13.3 microdeletion syndrome, MIM#\t612001; intellectual disability; epilepsy",
"entity_name": "ISCA-37411-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T13:04:25.091670+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.309",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37411-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T13:04:24.713682+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.309",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37411-Loss was added\nRegion: ISCA-37411-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37411-Loss.\nMode of inheritance for Region: ISCA-37411-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for Region: ISCA-37411-Loss were set to 19372089; 20979196\nPhenotypes for Region: ISCA-37411-Loss were set to Chromosome 15q13.3 microdeletion syndrome, MIM#\t612001; intellectual disability; epilepsy",
"entity_name": "ISCA-37411-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T12:58:21.989617+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.376",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37406-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T12:58:21.837354+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.376",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37406-Loss was added\nRegion: ISCA-37406-Loss was added to Microcephaly. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37406-Loss.\nMode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37406-Loss were set to 20101707; 17473832; 16783566\nPhenotypes for Region: ISCA-37406-Loss were set to Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome",
"entity_name": "ISCA-37406-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T12:57:41.130287+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.499",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37406-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T12:57:40.778655+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.499",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37406-Loss was added\nRegion: ISCA-37406-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37406-Loss.\nMode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37406-Loss were set to 20101707; 17473832; 16783566\nPhenotypes for Region: ISCA-37406-Loss were set to Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome",
"entity_name": "ISCA-37406-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T12:57:04.386717+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.235",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T12:57:04.322686+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.235",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37405-Loss was added\nRegion: ISCA-37405-Loss was added to Syndromic Retinopathy. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37405-Loss.\nMode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37405-Loss were set to 29146700\nPhenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM#\t256100; Joubert syndrome 4, MIM#\t609583; Senior-Loken syndrome 1, MIM#\t266900",
"entity_name": "ISCA-37405-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T12:57:02.868215+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.46",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T12:57:02.588601+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.46",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37405-Loss was added\nRegion: ISCA-37405-Loss was added to Renal Ciliopathies and Nephronophthisis. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37405-Loss.\nMode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37405-Loss were set to 29146700\nPhenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM#\t256100; Joubert syndrome 4, MIM#\t609583; Senior-Loken syndrome 1, MIM#\t266900",
"entity_name": "ISCA-37405-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T12:56:21.569604+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.33",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T12:56:21.427864+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.33",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37405-Loss was added\nRegion: ISCA-37405-Loss was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37405-Loss.\nMode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37405-Loss were set to 29146700\nPhenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM#\t256100; Joubert syndrome 4, MIM#\t609583; Senior-Loken syndrome 1, MIM#\t266900",
"entity_name": "ISCA-37405-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T12:55:56.273480+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.87",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37406-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T12:55:56.146014+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.87",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37406-Loss was added\nRegion: ISCA-37406-Loss was added to Growth failure. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37406-Loss.\nMode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37406-Loss were set to 20101707; 17473832; 16783566\nPhenotypes for Region: ISCA-37406-Loss were set to Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome",
"entity_name": "ISCA-37406-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T12:55:34.600546+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.499",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T12:55:34.238602+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.499",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37405-Loss was added\nRegion: ISCA-37405-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37405-Loss.\nMode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37405-Loss were set to 29146700\nPhenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM#\t256100; Joubert syndrome 4, MIM#\t609583; Senior-Loken syndrome 1, MIM#\t266900",
"entity_name": "ISCA-37405-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T12:54:49.404607+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.482",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T12:54:49.194114+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.482",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37405-Loss was added\nRegion: ISCA-37405-Loss was added to Fetal anomalies. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37405-Loss.\nMode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37405-Loss were set to 29146700\nPhenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM#\t256100; Joubert syndrome 4, MIM#\t609583; Senior-Loken syndrome 1, MIM#\t266900",
"entity_name": "ISCA-37405-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T12:54:45.953994+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.96",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T12:54:45.810762+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.96",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37405-Loss was added\nRegion: ISCA-37405-Loss was added to Ciliopathies. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37405-Loss.\nMode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37405-Loss were set to 29146700\nPhenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM#\t256100; Joubert syndrome 4, MIM#\t609583; Senior-Loken syndrome 1, MIM#\t266900",
"entity_name": "ISCA-37405-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T12:54:09.275520+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.160",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T12:54:09.096951+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.160",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37405-Loss was added\nRegion: ISCA-37405-Loss was added to Ataxia. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37405-Loss.\nMode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37405-Loss were set to 29146700\nPhenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM#\t256100; Joubert syndrome 4, MIM#\t609583; Senior-Loken syndrome 1, MIM#\t266900",
"entity_name": "ISCA-37405-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T12:53:48.625681+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.23",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37404-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T12:53:48.583482+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.23",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37404-Loss was added\nRegion: ISCA-37404-Loss was added to Severe early-onset obesity. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37404-Loss.\nMode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37404-Loss were set to 20301323; 20301505\nPhenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM#\t105830; Prader-Willi syndrome, MIM#\t176270",
"entity_name": "ISCA-37404-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T12:53:48.359874+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.498",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37404-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T12:53:48.021411+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.498",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37404-Loss was added\nRegion: ISCA-37404-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37404-Loss.\nMode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37404-Loss were set to 20301323; 20301505\nPhenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM#\t105830; Prader-Willi syndrome, MIM#\t176270",
"entity_name": "ISCA-37404-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T12:53:07.246894+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.308",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37404-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T12:53:06.982767+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.308",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37404-Loss was added\nRegion: ISCA-37404-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37404-Loss.\nMode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37404-Loss were set to 20301323; 20301505\nPhenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM#\t105830; Prader-Willi syndrome, MIM#\t176270",
"entity_name": "ISCA-37404-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T12:52:15.211764+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.159",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37404-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T12:52:14.965242+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.159",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37404-Loss was added\nRegion: ISCA-37404-Loss was added to Ataxia. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37404-Loss.\nMode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37404-Loss were set to 20301323; 20301505\nPhenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM#\t105830; Prader-Willi syndrome, MIM#\t176270",
"entity_name": "ISCA-37404-Loss",
"entity_type": "region"
},
{
"created": "2025-12-16T11:33:11.922149+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPS1 as ready",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:33:11.914307+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps1 has been classified as Green List (High Evidence).",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:33:07.287246+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPS1 were changed from to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:32:30.783786+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPS1 were set to ",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:32:03.018488+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:30:43.397372+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBA as ready",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:30:43.386435+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba has been classified as Green List (High Evidence).",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:30:07.034797+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBA were changed from to Gaucher disease, type I, MIM# 230800",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:29:39.181180+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:29:09.664913+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, type I, MIM# 230800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:27:43.578768+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM111B as ready",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:27:43.568716+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam111b has been classified as Green List (High Evidence).",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:27:41.398650+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM111B were changed from to hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:27:12.420249+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAM111B were set to ",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:26:45.384776+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM111B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:26:03.011595+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DKC1 as ready",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:26:03.000929+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dkc1 has been classified as Green List (High Evidence).",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:25:59.778609+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DKC1 were changed from to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:25:27.836763+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DKC1 were set to ",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:25:01.307493+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:24:23.976026+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSF2RB as ready",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:24:23.967845+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf2rb has been classified as Green List (High Evidence).",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:24:21.336309+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSF2RB were changed from to Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:23:56.066585+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSF2RB were set to ",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:23:28.636274+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSF2RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:22:43.126654+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSF2RA as ready",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:22:43.113632+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf2ra has been classified as Green List (High Evidence).",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:22:40.412810+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSF2RA were changed from to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:22:11.050474+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSF2RA were set to ",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:21:39.129590+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSF2RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:20:52.178982+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950; Farber lipogranulomatosis, MIM# 228000 to Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950; Farber lipogranulomatosis, MIM# 228000",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:20:35.102584+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASAH1 as ready",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:20:35.090311+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asah1 has been classified as Red List (Low Evidence).",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:20:29.334773+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASAH1 were changed from to Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950; Farber lipogranulomatosis, MIM# 228000",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:20:02.344464+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASAH1 were set to ",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:19:00.750238+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASAH1 as Red List (low evidence)",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:19:00.736480+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asah1 has been classified as Red List (Low Evidence).",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:18:18.086704+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASAH1: Added comment: Respiratory insufficiency due to muscle weakness in Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950, does not fit with panel scope.; Changed rating: RED",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:13:41.757822+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP3B1 as ready",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:13:41.747615+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap3b1 has been classified as Green List (High Evidence).",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:05:10.918060+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:04:40.641533+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP3B1 were set to 10024875; 11809908; 14566336",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:04:15.142015+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP3B1 were set to ",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2025-12-16T11:03:25.482471+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2025-12-16T10:57:42.413008+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNNI3 were set to 22464770; 31568572; 19590045; 20215591; 21846512; 2226790; 30681346; 15607392",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2025-12-16T10:57:05.811266+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNNI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2025-12-16T10:56:37.123092+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TNNI3: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2025-12-16T10:53:42.692497+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 35838873 describes 7 individuals from 5 families with biallelic loss‑of‑function variants (c.150G>A splice and c.204del truncating) causing severe neonatal cardiomyopathy requiring early transplantation.; to: PMID 35838873 describes 7 individuals from 5 families with biallelic loss‑of‑function variants causing severe neonatal cardiomyopathy requiring early transplantation. The homozygous p.Arg69Alafs*8 was observed in four of the families, raising concern about founder effect.",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2025-12-16T10:49:52.685359+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: DEFINITIVE by ClinGen for HCM (mono-allelic) and STRONG for DCM.; to: DEFINITIVE by ClinGen for HCM (mono-allelic, dominant negative) and STRONG for DCM.",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2025-12-16T10:49:11.138264+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: TNNI3: DEFINITIVE by ClinGen for HCM (mono-allelic) and STRONG for DCM.",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2025-12-16T10:48:02.111524+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TNNI3: Added comment: PMID 35838873 describes 7 individuals from 5 families with biallelic loss‑of‑function variants (c.150G>A splice and c.204del truncating) causing severe neonatal cardiomyopathy requiring early transplantation.; Changed publications: 22464770, 31568572, 19590045, 20215591, 21846512, 2226790, 30681346, 35838873",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2025-12-16T08:37:13.734419+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.50",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: HRAS as ready",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2025-12-16T08:37:13.726912+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.50",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hras has been classified as Green List (High Evidence).",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2025-12-16T08:36:51.430738+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.50",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: NF1 as ready",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2025-12-16T08:36:51.420109+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.50",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nf1 has been classified as Green List (High Evidence).",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2025-12-16T08:36:34.218812+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.50",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene NF1 from panel Interstitial Lung Disease",
"entity_name": null,
"entity_type": null
}
]
}