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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=59",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=57",
"results": [
{
"created": "2026-01-14T21:13:55.083640+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLAT were set to ",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2026-01-14T21:12:30.000833+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLAT as Green List (high evidence)",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2026-01-14T21:12:29.993296+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlat has been classified as Green List (High Evidence).",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2026-01-14T21:11:28.435595+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:53:28.048341+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TARDBP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TARDBP",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:53:01.355005+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TARDBP",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:50:38.959944+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SORL1 as ready",
"entity_name": "SORL1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:50:38.951757+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sorl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SORL1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:49:58.414617+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SORL1 from panel Incidentalome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T17:49:58.128825+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SORL1 was added\ngene: SORL1 was added to Early-onset Dementia. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: SORL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SORL1 were set to 27026413; 39226352; 40182695\nPhenotypes for gene: SORL1 were set to Alzheimer disease, MONDO:0004975, SORL1-related",
"entity_name": "SORL1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:48:56.787131+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SORL1 as ready",
"entity_name": "SORL1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:48:56.779050+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sorl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SORL1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:48:54.392789+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SORL1 were changed from to Alzheimer disease, MONDO:0004975, SORL1-related",
"entity_name": "SORL1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:48:32.742830+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SORL1 were set to ",
"entity_name": "SORL1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:48:03.208770+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SORL1: Changed publications: 27026413, 39226352, 40182695",
"entity_name": "SORL1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:47:21.362138+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SORL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SORL1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:46:54.286947+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SORL1 as Amber List (moderate evidence)",
"entity_name": "SORL1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:46:54.278286+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sorl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SORL1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:46:27.342421+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SORL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alzheimer disease, MONDO:0004975, SORL1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SORL1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:41:26.701269+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOD1 as ready",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:41:26.690859+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sod1 has been classified as Green List (High Evidence).",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:41:23.805590+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOD1 were changed from to Amyotrophic lateral sclerosis 1 MIM#105400; Spastic tetraplegia and axial hypotonia, progressive MIM#618598",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:40:54.488154+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOD1 were set to ",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:40:27.022720+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:28:52.139609+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU4-2 as ready",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:28:52.130027+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu4-2 has been classified as Green List (High Evidence).",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:28:46.038262+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU4-2 were set to 38991538",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:28:02.694286+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNU4-2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:23:20.127227+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.349",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene RNU4-2 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T17:16:22.274522+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU4-2 were set to 38991538",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:15:57.269164+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNU4-2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:15:29.176849+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU4-2: Added comment: PMID 40297424: preprint reporting 16 individuals from 10 families with balletic variants and presenting with global developmental delay, intellectual disability, speech delay or absence, hypotonia, spasticity, microcephaly, ophthalmologic and visual impairment, seizures, and variable genital, skin, hair and limb anomalies; brain MRI shows distinctive white‑matter abnormalities and cerebellar atrophy.; Changed publications: 38991538, 40297424; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:14:20.120525+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU4-2 were set to 38991538",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:14:00.516733+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNU4-2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-14T17:13:42.642248+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU4-2: Added comment: PMID 40297424: preprint reporting 16 individuals from 10 families with balletic variants and presenting with global developmental delay, intellectual disability, speech delay or absence, hypotonia, spasticity, microcephaly, ophthalmologic and visual impairment, seizures, and variable genital, skin, hair and limb anomalies; brain MRI shows distinctive white‑matter abnormalities and cerebellar atrophy.; Changed publications: 38991538, 40297424; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-14T16:55:50.169120+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGB3 were changed from Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552 to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552; Glanzmann thrombasthenia 2, MIM# 619267",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2026-01-14T16:53:02.223489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITGB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2026-01-14T16:24:21.398357+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ITGB3: Added comment: Multiple families reported with biallelic variants and Glanzmann thrombasthenia.; Changed publications: 18065693, 19336737, 20081061, 23253071, 20020534; Changed phenotypes: Bleeding disorder, platelet-type, 24, MIM#619271, MONDO:0008552, Glanzmann thrombasthenia 2, MIM# 619267; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2026-01-14T16:17:56.905872+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGB3 were changed from Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552 to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552; Glanzmann thrombasthenia 2, MIM# 619267",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2026-01-14T16:17:26.389366+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITGB3 were set to 18065693; 19336737; 20081061; 23253071",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2026-01-14T16:16:47.310867+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITGB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2026-01-14T16:16:17.932920+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ITGB3: Added comment: Multiple families reported with biallelic variants and Glanzmann thrombasthenia.; Changed publications: 18065693, 19336737, 20081061, 23253071, 20020534; Changed phenotypes: Bleeding disorder, platelet-type, 24, MIM#619271, MONDO:0008552, Glanzmann thrombasthenia 2, MIM# 619267; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:59:52.478122+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBE1 as ready",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:59:52.441176+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gbe1 has been classified as Green List (High Evidence).",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:59:46.702866+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GBE1 were set to 8613547",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:59:16.194167+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GBE1: Added comment: PMID 30303820 reports several cases presenting with fetal akinesia, the severe end of the spectrum for this gene.; Changed publications: 8613547, 30303820",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:58:38.042459+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene GBE1 from panel Arthrogryposis",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T15:58:37.884565+11:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBE1 was added\ngene: GBE1 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBE1 were set to 8613547\nPhenotypes for gene: GBE1 were set to Glycogen storage disease IV, MIM# 232500",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:38:17.962680+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP9A as ready",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:38:17.953892+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp9a has been classified as Green List (High Evidence).",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:38:08.237677+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:38:06.155405+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:37:55.638690+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ATP9A: Seizures reported with both MOIs.",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:37:38.375121+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.348",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ATP9A from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T15:37:38.021461+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP9A was added\ngene: ATP9A was added to Genetic Epilepsy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ATP9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ATP9A were set to 34379057; 34764295; 36604604; 40226306\nPhenotypes for gene: ATP9A were set to Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:25:17.181317+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP9A were set to 34379057; 34764295",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:24:37.373906+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP9A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:24:12.998908+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP9A: Added comment: PMIDs 34379057, 34764295, 36604604 and 40226306 report 12 unrelated families with ATP9A variants. Six families carry biallelic loss‑of‑function variants causing an autosomal recessive neurodevelopmental disorder with post‑natal microcephaly, failure‑to‑thrive and behavioural abnormalities; five families carry de novo heterozygous missense variants causing autosomal dominant nonsyndromic intellectual disability with seizures and autism‑like features. Multiple functional studies in patient cells, mouse knock‑out models and rescue assays provide strong loss‑of‑function evidence.; Changed publications: 34379057, 34764295, 36604604, 40226306; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:22:22.175948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP9A were set to 34379057; 34764295",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:22:01.887485+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP9A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2026-01-14T15:21:42.858014+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP9A: Added comment: PMIDs 34379057, 34764295, 36604604 and 40226306 report 12 unrelated families with ATP9A variants. Six families carry biallelic loss‑of‑function variants causing an autosomal recessive neurodevelopmental disorder with post‑natal microcephaly, failure‑to‑thrive and behavioural abnormalities; five families carry de novo heterozygous missense variants causing autosomal dominant nonsyndromic intellectual disability with seizures and autism‑like features. Multiple functional studies in patient cells, mouse knock‑out models and rescue assays provide strong loss‑of‑function evidence.; Changed publications: 40226306, 36604604, 34764295, 34379057; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2026-01-14T13:38:09.737456+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.48",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KCNN3 as Green List (high evidence)",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2026-01-14T13:38:09.725970+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.48",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kcnn3 has been classified as Green List (High Evidence).",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2026-01-14T13:26:17.451750+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.590",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 39007626, 29093066, 16049940; Phenotypes: Pyruvate dehydrogenase E2 deficiency, MIM#245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2026-01-14T13:01:31.774825+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.72",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37494-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T13:01:31.663755+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.72",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37494-Loss was added\nRegion: ISCA-37494-Loss was added to Infertility and Recurrent Pregnancy Loss. Sources: ClinGen\nMode of inheritance for Region: ISCA-37494-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for Region: ISCA-37494-Loss were set to PMID: 25927380, 21984752",
"entity_name": "ISCA-37494-Loss",
"entity_type": "region"
},
{
"created": "2026-01-14T13:01:14.554483+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.149",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37494-Loss was added\nRegion: ISCA-37494-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen\nMode of inheritance for Region: ISCA-37494-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for Region: ISCA-37494-Loss were set to PMID: 25927380, 21984752\nReview for Region: ISCA-37494-Loss was set to GREEN\nAdded comment: HI3 region defined by Clingen encompasses BRCC3, CLIC2, F8, RAB39B. \r\nInterestingly described females thus far show no phenotype due to skewed X inactivation, thought to be lethal for males (some reports of increased pregnancy loss in carrier mothers) \nSources: ClinGen",
"entity_name": "ISCA-37494-Loss",
"entity_type": "region"
},
{
"created": "2026-01-14T12:41:41.498058+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.590",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37494-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T12:41:41.131075+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.590",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37494-Gain was added\nRegion: ISCA-37494-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37494-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-37494-Gain were set to 25927380; 20301461; 32043567; 32112660\nPhenotypes for Region: ISCA-37494-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815; intellectual disability; hypotonia; seizures; spasticity; recurrent respiratory infections",
"entity_name": "ISCA-37494-Gain",
"entity_type": "region"
},
{
"created": "2026-01-14T12:41:04.331793+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.396",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37493-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T12:41:04.037069+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.396",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37493-Loss was added\nRegion: ISCA-37493-Loss was added to Microcephaly. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37493-Loss.\nMode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37493-Loss were set to 28283832; 31929334; 31830750; 30853971\nPhenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities",
"entity_name": "ISCA-37493-Loss",
"entity_type": "region"
},
{
"created": "2026-01-14T12:40:24.266100+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.590",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37493-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T12:40:23.910846+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.590",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37493-Loss was added\nRegion: ISCA-37493-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37493-Loss.\nMode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37493-Loss were set to 28283832; 31929334; 31830750; 30853971\nPhenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities",
"entity_name": "ISCA-37493-Loss",
"entity_type": "region"
},
{
"created": "2026-01-14T12:39:36.038789+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.347",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37493-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T12:39:35.739558+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.347",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37493-Loss was added\nRegion: ISCA-37493-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37493-Loss.\nMode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37493-Loss were set to 28283832; 31929334; 31830750; 30853971\nPhenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities",
"entity_name": "ISCA-37493-Loss",
"entity_type": "region"
},
{
"created": "2026-01-14T12:38:44.324696+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.587",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37493-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T12:38:44.141623+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.587",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37493-Loss was added\nRegion: ISCA-37493-Loss was added to Callosome. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37493-Loss.\nMode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37493-Loss were set to 28283832; 31929334; 31830750; 30853971\nPhenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities",
"entity_name": "ISCA-37493-Loss",
"entity_type": "region"
},
{
"created": "2026-01-14T12:37:35.259907+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.26",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37486-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T12:37:35.189441+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.26",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37486-Loss was added\nRegion: ISCA-37486-Loss was added to Severe early-onset obesity. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37486-Loss.\nMode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37486-Loss were set to 19914906; 32993859; 32732550; 32597026; 32537635\nPhenotypes for Region: ISCA-37486-Loss were set to Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity",
"entity_name": "ISCA-37486-Loss",
"entity_type": "region"
},
{
"created": "2026-01-14T12:37:35.006576+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.589",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37486-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T12:37:34.601893+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.589",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37486-Loss was added\nRegion: ISCA-37486-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37486-Loss.\nMode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37486-Loss were set to 19914906; 32993859; 32732550; 32597026; 32537635\nPhenotypes for Region: ISCA-37486-Loss were set to Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity",
"entity_name": "ISCA-37486-Loss",
"entity_type": "region"
},
{
"created": "2026-01-14T12:36:51.242949+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.239",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37486-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T12:36:51.048791+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.239",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37486-Loss was added\nRegion: ISCA-37486-Loss was added to Autism. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37486-Loss.\nMode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37486-Loss were set to 19914906; 32993859; 32732550; 32597026; 32537635\nPhenotypes for Region: ISCA-37486-Loss were set to Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity",
"entity_name": "ISCA-37486-Loss",
"entity_type": "region"
},
{
"created": "2026-01-14T12:34:32.729524+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.25",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37478-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T12:34:32.592027+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.25",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37478-Loss was added\nRegion: ISCA-37478-Loss was added to Severe early-onset obesity. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37478-Loss.\nMode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37478-Loss were set to 22045295\nPhenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270",
"entity_name": "ISCA-37478-Loss",
"entity_type": "region"
},
{
"created": "2026-01-14T12:34:32.422004+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.588",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37478-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T12:34:32.084476+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.588",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37478-Loss was added\nRegion: ISCA-37478-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37478-Loss.\nMode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37478-Loss were set to 22045295\nPhenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270",
"entity_name": "ISCA-37478-Loss",
"entity_type": "region"
},
{
"created": "2026-01-14T12:33:48.619061+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.79",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37478-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T12:33:48.559287+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.79",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37478-Loss was added\nRegion: ISCA-37478-Loss was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37478-Loss.\nMode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37478-Loss were set to 22045295\nPhenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270",
"entity_name": "ISCA-37478-Loss",
"entity_type": "region"
},
{
"created": "2026-01-14T12:33:48.358993+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.79",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37478-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-14T12:33:48.291786+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.79",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37478-Loss was added\nRegion: ISCA-37478-Loss was added to Congenital hypothyroidism. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37478-Loss.\nMode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37478-Loss were set to 22045295\nPhenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270",
"entity_name": "ISCA-37478-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T15:00:40.806362+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.111",
"user_name": "Sinead OSullivan",
"item_type": "entity",
"text": "gene: CTU2 was added\ngene: CTU2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Literature\nMode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTU2 were set to (PMID: 26633546): (PMID: 27480277): (PMID: 31301155): (PMID: 8348206)\nPhenotypes for gene: CTU2 were set to global developmental delay; microcephaly; growth restriction; dysmorphism; renal agenesis; congenital heart defects, epilepsy, microphthalmia; coloboma\nReview for gene: CTU2 was set to GREEN\nAdded comment: PMID: 26633546\r\n- 3 consanguineous families all with the same splice variant (NM_001012762.1:c.873G>A). Assumed to be founder variant\r\n- all had microcephaly but measurements were not provided\r\n\r\nPMID: 27480277\r\n- 2 additional patients from an extended consanguineous family with the same variant as above\r\n- Patient 1: head circumference of -3.5SD at birth, not growing\r\n- Patient 2: head circumference of -4.3 SD\r\n\r\nPMID: 31301155\r\n- 5 new patients with microcephaly (no measurements provided)\r\n- 3x PTVs and 1x missense\r\n\r\nPMID: 38348206\r\n- 1 new patient with microcephaly, dysmorphism, ambiguous genitalia and atrial septal defect\r\n- From the consanguineous family stated above with the splice site founder variant (NM_001012762.1:c.873G>A) \nSources: Literature",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2026-01-13T14:57:38.473887+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.147",
"user_name": "Sinead OSullivan",
"item_type": "entity",
"text": "gene: CTU2 was added\ngene: CTU2 was added to Genomic newborn screening: BabyScreen+. Sources: Literature\nMode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTU2 were set to PMID: 31301155; 27480277; 26633546\nPhenotypes for gene: CTU2 were set to global developmental delay; microcephaly; growth restriction; dysmorphism; renal agenesis; congenital heart defects, epilepsy, microphthalmia; coloboma\nReview for gene: CTU2 was set to GREEN\nAdded comment: PMID: 26633546\r\n- 3 consanguineous families all with the same splice variant (NM_001012762.1:c.873G>A). Assumed to be founder variant\r\n- all had microcephaly but measurements were not provided\r\n\r\nPMID: 27480277\r\n- 2 additional patients from an extended consanguineous family with the same variant as above\r\n- Patient 1: head circumference of -3.5SD at birth, not growing\r\n- Patient 2: head circumference of -4.3 SD\r\n\r\nPMID: 31301155\r\n- 5 new patients with microcephaly (no measurements provided)\r\n- 3x PTVs and 1x missense\r\n\r\nPMID: 38348206\r\n- 1 new patient with microcephaly, dysmorphism, ambiguous genitalia and atrial septal defect\r\n- From the consanguineous family stated above with the splice site founder variant (NM_001012762.1:c.873G>A) \nSources: Literature",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2026-01-13T11:41:11.326935+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.587",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37478-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T11:41:10.966290+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.587",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37478-Gain was added\nRegion: ISCA-37478-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37478-Gain.\nMode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37478-Gain were set to Chromosome 15q11q13 duplication syndrome, MIM#608636; autism; intellectual disability; ataxia",
"entity_name": "ISCA-37478-Gain",
"entity_type": "region"
},
{
"created": "2026-01-13T11:40:29.153653+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.346",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37478-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T11:40:28.843571+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.346",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37478-Gain was added\nRegion: ISCA-37478-Gain was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37478-Gain.\nMode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37478-Gain were set to Chromosome 15q11q13 duplication syndrome, MIM#608636; autism; intellectual disability; ataxia",
"entity_name": "ISCA-37478-Gain",
"entity_type": "region"
},
{
"created": "2026-01-13T11:39:36.745691+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.238",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37478-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T11:39:36.513524+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.238",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37478-Gain was added\nRegion: ISCA-37478-Gain was added to Autism. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37478-Gain.\nMode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37478-Gain were set to Chromosome 15q11q13 duplication syndrome, MIM#608636; autism; intellectual disability; ataxia",
"entity_name": "ISCA-37478-Gain",
"entity_type": "region"
},
{
"created": "2026-01-13T11:34:43.399341+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.148",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy to Chromosome Xp11.23 deletion syndrome",
"entity_name": "ISCA-37468-Loss",
"entity_type": "region"
}
]
}