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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=56",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=54",
"results": [
{
"created": "2026-01-22T09:47:12.486175+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.302",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GABRB3 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:47:12.300674+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.302",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GABRB3 was added\ngene: GABRB3 was added to Dystonia - complex. Sources: Expert Review Green,Literature\nMode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRB3 were set to 37647766\nPhenotypes for gene: GABRB3 were set to Developmental and epileptic encephalopathy 43 MIM#617113\nMode of pathogenicity for gene: GABRB3 was set to Other",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:46:46.590168+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.301",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene DRD2 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:46:46.412392+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DRD2 was added\ngene: DRD2 was added to Dystonia - complex. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: DRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DRD2 were set to 33200438\nPhenotypes for gene: DRD2 were set to Combined dystonia, MONDO:0020065, DRD2-related; dystonia; chorea; anxiety; ataxia; orofacial dyskinesia; tremor; memory problems\nPenetrance for gene: DRD2 were set to Complete\nMode of pathogenicity for gene: DRD2 was set to Other",
"entity_name": "DRD2",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:46:18.602654+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.300",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene COL6A3 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:46:18.424460+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.300",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL6A3 was added\ngene: COL6A3 was added to Dystonia - complex. Sources: Expert Review Amber,Royal Melbourne Hospital,Victorian Clinical Genetics Services\nMode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL6A3 were set to 26004199; 32037012; 26872670; 32037012\nPhenotypes for gene: COL6A3 were set to Dystonia 27, MIM#616411",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:45:37.748722+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.299",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CIZ1 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:45:37.551748+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CIZ1 was added\ngene: CIZ1 was added to Dystonia - complex. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: CIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CIZ1 were set to 27163549; 29154038; 22447717\nPhenotypes for gene: CIZ1 were set to Dystonia 23, 614860",
"entity_name": "CIZ1",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:45:07.234716+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.298",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CACNA1B from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:45:07.053551+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CACNA1B was added\ngene: CACNA1B was added to Dystonia - complex. Sources: Expert Review Red,Other\nMode of inheritance for gene: CACNA1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1B were set to 25296916; 26157024; 35698023; 33051750; 35041927\nPhenotypes for gene: CACNA1B were set to Myoclonus-dystonia syndrome MONDO:0000903",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:44:32.136098+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.297",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene C9orf3 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:44:31.968421+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: C9orf3 was added\ngene: C9orf3 was added to Dystonia - complex. Sources: Expert Review Green,Literature\nnew gene name tags were added to gene: C9orf3.\nMode of inheritance for gene: C9orf3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C9orf3 were set to 34596301\nPhenotypes for gene: C9orf3 were set to Dystonia 31, MIM#\t619565",
"entity_name": "C9orf3",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:44:07.144654+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.296",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ATP5B from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:44:06.823016+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.296",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP5B was added\ngene: ATP5B was added to Dystonia - complex. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: ATP5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ATP5B were set to 36860166; 40276935\nPhenotypes for gene: ATP5B were set to Inherited dystonia, MONDO:0044807, ATP5B-related\nPenetrance for gene: ATP5B were set to Incomplete",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:43:30.484464+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.295",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ATP1A3 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:43:30.316181+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP1A3 was added\ngene: ATP1A3 was added to Dystonia - complex. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP1A3 were set to 15260953; 17282997; 19351654, 22842232, 24468074, 33762331, 29861155, 31425744\nPhenotypes for gene: ATP1A3 were set to ATP1A3-associated neurological disorder, MONDO:0700002",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:43:09.274370+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.294",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ARFGEF3 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:43:09.101875+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.294",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARFGEF3 was added\ngene: ARFGEF3 was added to Dystonia - complex. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: ARFGEF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARFGEF3 were set to PMID: 33098801\nPhenotypes for gene: ARFGEF3 were set to Dystonia, MONDO:0044807, ARFGEF3-related",
"entity_name": "ARFGEF3",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:42:26.473794+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.293",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ANO3 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:42:26.306447+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.293",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANO3 was added\ngene: ANO3 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANO3 were set to 33388357\nPhenotypes for gene: ANO3 were set to Dystonia 24, 615034; familial form of cranio-cervical dystonia",
"entity_name": "ANO3",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:41:49.075499+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.292",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ADCY5 from panel Dystonia - isolated/combined",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T09:41:48.910848+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.292",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADCY5 was added\ngene: ADCY5 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ADCY5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598; 34631954; 28971144; 30975617\nPhenotypes for gene: ADCY5 were set to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:36:51.787272+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.612",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MAEA as Green List (high evidence)",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2026-01-22T09:36:51.777622+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.612",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: maea has been classified as Green List (High Evidence).",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2026-01-22T08:34:58.939491+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.611",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene MAEA from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T08:28:44.289904+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MAEA as Green List (high evidence)",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2026-01-22T08:28:44.282461+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: maea has been classified as Green List (High Evidence).",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2026-01-22T08:28:30.685078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: MAEA were set to 40880485",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2026-01-22T08:28:04.201612+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: MAEA: Rating: GREEN; Mode of pathogenicity: None; Publications: 41420108, 40880485; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2026-01-22T08:07:01.875616+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: TENM4 were changed from Neurodevelopmental disorder, MONDO:0700092; tremor, hereditary essential, 5 MONDO:0014756; first branchial cleft anomaly MONDO:0015376 to tremor, hereditary essential, 5 MONDO:0014756",
"entity_name": "TENM4",
"entity_type": "gene"
},
{
"created": "2026-01-22T08:06:02.160503+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: TENM4 encodes a type II transmembrane teneurin involved in neuronal development and oligodendrocyte maturation. \r\n\r\nAmber for essential tremor - 2 families with rare missense and supporting segregation evidence, plus mouse & zebrafish models. 2 other GDAs have limited evidence.\r\nPMID 26188006 - 3 families reported with essential tremor with incomplete segregation. 2 of the variants (p.Ala1442Thr and p.Val1138Met) are more common than expected in gnomAD. p.Thr1367Asn is a rare missense and segregates with ET over 3 generations (2 unaffected carriers under the average age of onset). Functional assays demonstrate dominant‑negative effects in oligodendrocyte precursor cells and zebrafish axon‑guidance defects for all 3 variants.\r\n PMID 36689009 - rare heterozygous missense (p.P421L) segregating in 5 affected individuals with ET in a single family\r\n PMID 29249217 - a case with hereditary tremor‑like syndrome with palatal tremor but no description of the TENM4 variant in the paper.\r\nPMID 22915103 - myelination of small-diameter axons was dramatically reduced, and differentiation of oligodendrocytes, the myelin-forming cells in the CNS, was inhibited in null mouse model.\r\n\r\nPMID 34589676 - 2 rare missense in 2 patients with first branchial cleft anomalies. No other evidence. Multiple missense in different genes in one of the patients. - limited evidence for gene-disease association\r\n\r\nPMID 41449293 - rare splice variant identified in a single family (segregates in 6 individuals) with childhood‑onset intellectual disability with epilepsy. Splice‑site‑mediated exon 10 skipping leading to seizures in a mouse model, supporting a pathogenic role. - single family reported \nSources: Literature; to: TENM4 encodes a type II transmembrane teneurin involved in neuronal development and oligodendrocyte maturation. \r\nAmber for essential tremor - 2 families with rare missense and supporting segregation evidence, plus mouse & zebrafish models. 2 other GDAs have limited evidence.\r\nPMID 26188006 - 3 families reported with essential tremor with incomplete segregation. 2 of the variants (p.Ala1442Thr and p.Val1138Met) are more common than expected in gnomAD. p.Thr1367Asn is a rare missense and segregates with ET over 3 generations (2 unaffected carriers under the average age of onset). Functional assays demonstrate dominant‑negative effects in oligodendrocyte precursor cells and zebrafish axon‑guidance defects for all 3 variants.\r\n PMID 36689009 - rare heterozygous missense (p.P421L) segregating in 5 affected individuals with ET in a single family\r\n PMID 29249217 - a case with hereditary tremor‑like syndrome with palatal tremor but no description of the TENM4 variant in the paper.\r\nPMID 22915103 - myelination of small-diameter axons was dramatically reduced, and differentiation of oligodendrocytes, the myelin-forming cells in the CNS, was inhibited in null mouse model.\r\nSources: Literature",
"entity_name": "TENM4",
"entity_type": "gene"
},
{
"created": "2026-01-21T23:20:32.348023+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.48",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TENM4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-21T23:20:32.101500+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TENM4 was added\ngene: TENM4 was added to Early-onset Parkinson disease. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: TENM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TENM4 were set to 41449293; 36689009; 26188006; 29249217; 34589676; 22915103\nPhenotypes for gene: TENM4 were set to Neurodevelopmental disorder, MONDO:0700092; tremor, hereditary essential, 5 MONDO:0014756; first branchial cleft anomaly MONDO:0015376",
"entity_name": "TENM4",
"entity_type": "gene"
},
{
"created": "2026-01-21T23:17:45.730657+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TENM4 as Amber List (moderate evidence)",
"entity_name": "TENM4",
"entity_type": "gene"
},
{
"created": "2026-01-21T23:17:45.717427+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tenm4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TENM4",
"entity_type": "gene"
},
{
"created": "2026-01-21T23:17:22.048740+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TENM4 was added\ngene: TENM4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TENM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TENM4 were set to 41449293; 36689009; 26188006; 29249217; 34589676; 22915103\nPhenotypes for gene: TENM4 were set to Neurodevelopmental disorder, MONDO:0700092; tremor, hereditary essential, 5 MONDO:0014756; first branchial cleft anomaly MONDO:0015376\nReview for gene: TENM4 was set to AMBER\nAdded comment: TENM4 encodes a type II transmembrane teneurin involved in neuronal development and oligodendrocyte maturation. \r\n\r\nAmber for essential tremor - 2 families with rare missense and supporting segregation evidence, plus mouse & zebrafish models. 2 other GDAs have limited evidence.\r\nPMID 26188006 - 3 families reported with essential tremor with incomplete segregation. 2 of the variants (p.Ala1442Thr and p.Val1138Met) are more common than expected in gnomAD. p.Thr1367Asn is a rare missense and segregates with ET over 3 generations (2 unaffected carriers under the average age of onset). Functional assays demonstrate dominant‑negative effects in oligodendrocyte precursor cells and zebrafish axon‑guidance defects for all 3 variants.\r\n PMID 36689009 - rare heterozygous missense (p.P421L) segregating in 5 affected individuals with ET in a single family\r\n PMID 29249217 - a case with hereditary tremor‑like syndrome with palatal tremor but no description of the TENM4 variant in the paper.\r\nPMID 22915103 - myelination of small-diameter axons was dramatically reduced, and differentiation of oligodendrocytes, the myelin-forming cells in the CNS, was inhibited in null mouse model.\r\n\r\nPMID 34589676 - 2 rare missense in 2 patients with first branchial cleft anomalies. No other evidence. Multiple missense in different genes in one of the patients. - limited evidence for gene-disease association\r\n\r\nPMID 41449293 - rare splice variant identified in a single family (segregates in 6 individuals) with childhood‑onset intellectual disability with epilepsy. Splice‑site‑mediated exon 10 skipping leading to seizures in a mouse model, supporting a pathogenic role. - single family reported \nSources: Literature",
"entity_name": "TENM4",
"entity_type": "gene"
},
{
"created": "2026-01-21T20:34:17.931391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WNT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2026-01-21T20:31:51.208329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B2, MIM# 618435 to Arthrogryposis, distal, type 2B2, MIM# 618435; Nemaline myopathy MONDO:0018958",
"entity_name": "TNNT3",
"entity_type": "gene"
},
{
"created": "2026-01-21T20:31:21.941419+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNNT3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TNNT3",
"entity_type": "gene"
},
{
"created": "2026-01-21T20:31:02.521094+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TNNT3: Added comment: Three individuals from two unrelated families with bi-allelic variants and nemaline myopathy.; Changed publications: 12865991, 19142688, 21402185, 25337069, 17194691, 33977145, 29266598, 23775847; Changed phenotypes: Arthrogryposis, distal, type 2B2, MIM# 618435, Nemaline myopathy MONDO:0018958; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TNNT3",
"entity_type": "gene"
},
{
"created": "2026-01-21T19:37:58.007672+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETX as ready",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2026-01-21T19:37:57.997867+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setx has been classified as Green List (High Evidence).",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2026-01-21T19:37:51.797734+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETX were changed from to Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433)",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2026-01-21T19:37:24.981145+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETX were set to ",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2026-01-21T19:36:48.068086+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2026-01-21T18:56:57.659878+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLA2G6 as ready",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2026-01-21T18:56:57.649794+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g6 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2026-01-21T18:56:54.812241+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLA2G6 were changed from to Parkinson disease 14, autosomal recessive 612953",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2026-01-21T18:56:29.752275+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLA2G6 were set to ",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2026-01-21T18:56:00.800399+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLA2G6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2026-01-21T18:51:42.957203+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOD2 were changed from Blau syndrome, MIM# 186580 to Blau syndrome, MIM# 186580; {Inflammatory bowel disease 1, Crohn disease} 266600; {Yao syndrome} 617321",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2026-01-21T18:51:14.142017+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOD2 were set to 15459013",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2026-01-21T18:50:43.879808+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2026-01-21T18:50:17.224081+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NOD2: Added comment: PMID 33692434 reports 92 unrelated families with biallelic loss‑of‑function NOD2 variants causing early‑onset Crohn’s disease.\r\n\r\nYao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. PMID 39372397 describes 152 adult‑onset Yao syndrome patients, many carrying the cis‑regulatory IVS8+158 variant that shows functional gain‑of‑function.; Changed publications: 15459013, 11385576, 17804789, 32463623, 33692434, 39372397; Changed phenotypes: Blau syndrome, MIM# 186580, {Inflammatory bowel disease 1, Crohn disease} 266600, {Yao syndrome} 617321; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:37:53.579420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOD2 were changed from Blau syndrome, MIM# 186580 to Blau syndrome, MIM# 186580; {Inflammatory bowel disease 1, Crohn disease} 266600; {Yao syndrome} 617321",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:37:35.152424+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOD2 were set to 15459013",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:37:15.851137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:36:59.461167+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NOD2: Added comment: PMID 33692434 reports 92 unrelated families with biallelic loss‑of‑function NOD2 variants causing early‑onset Crohn’s disease.\r\nYao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. PMID 39372397 describes 152 adult‑onset Yao syndrome patients, many carrying the cis‑regulatory IVS8+158 variant that shows functional gain‑of‑function.; Changed publications: 15459013, 11385576, 17804789, 32463623, 33692434, 39372397; Changed phenotypes: Blau syndrome, MIM# 186580, {Inflammatory bowel disease 1, Crohn disease} 266600, {Yao syndrome} 617321; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:33:00.620841+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NCSTN were changed from to Acne inversa, familial, 1 MIM#142690",
"entity_name": "NCSTN",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:32:45.038403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NCSTN were set to ",
"entity_name": "NCSTN",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:31:51.582579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NCSTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NCSTN",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:14:52.462381+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EVC2 as ready",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:14:52.449125+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: evc2 has been classified as Green List (High Evidence).",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:14:48.335709+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EVC2 were set to ",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:14:23.982441+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:13:59.786747+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EVC2: Added comment: Both conditions have skeletal manifestations.; Changed phenotypes: Ellis-van Creveld syndrome (MIM#225500), Weyers acrofacial dysostosis, MIM# 193530; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:12:58.033592+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EVC2 as ready",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:12:58.023473+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: evc2 has been classified as Green List (High Evidence).",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:12:55.008845+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EVC2 were changed from to Ellis-van Creveld syndrome, MIM# 225500 Weyers acrofacial dysostosis, MIM# 193530",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:12:21.996709+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500 Weyers acrofacial dysostosis, MIM# 193530; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:10:57.214461+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EVC2 were changed from Ellis-van Creveld syndrome (MIM#225500) to Ellis-van Creveld syndrome (MIM#225500); Weyers acrofacial dysostosis, MIM# 193530",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:10:37.994904+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2026-01-21T17:10:22.682787+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EVC2: Added comment: Variants associated with Weyers acrofacial dysostosis cluster in exon 22.; Changed phenotypes: Ellis-van Creveld syndrome (MIM#225500), Weyers acrofacial dysostosis, MIM# 193530; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2026-01-21T11:00:34.239448+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.117",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene B3GNT4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-21T11:00:34.020047+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.117",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: B3GNT4 was added\ngene: B3GNT4 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: B3GNT4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B3GNT4 were set to 41444428\nPhenotypes for gene: B3GNT4 were set to Hereditary neurological disease, MONDO:0100545, B3GNT4-related",
"entity_name": "B3GNT4",
"entity_type": "gene"
},
{
"created": "2026-01-21T10:59:46.949697+11:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.65",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene B3GNT4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-21T10:59:46.773925+11:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.65",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: B3GNT4 was added\ngene: B3GNT4 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: B3GNT4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B3GNT4 were set to 41444428\nPhenotypes for gene: B3GNT4 were set to Hereditary neurological disease, MONDO:0100545, B3GNT4-related",
"entity_name": "B3GNT4",
"entity_type": "gene"
},
{
"created": "2026-01-21T10:55:33.610886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4090",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: B3GNT4 was added\ngene: B3GNT4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: B3GNT4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B3GNT4 were set to 41444428\nPhenotypes for gene: B3GNT4 were set to Hereditary neurological disease, MONDO:0100545, B3GNT4-related\nReview for gene: B3GNT4 was set to RED\nAdded comment: PMID 41444428 reports 1 individual from 1 family with autosomal recessive homozygous missense variant c.478G>T (p.G160W) presenting with late‑onset progressive brain atrophy and muscular dystrophy. The patient had normal development until age 8, then progressive motor decline, spastic paresis, severe muscle wasting, elevated CK, loss of language, and died at 47 years of age from respiratory failure. A knock‑in mouse model reproduces the muscle but not CNS aspects of phenotype. \nSources: Literature",
"entity_name": "B3GNT4",
"entity_type": "gene"
},
{
"created": "2026-01-19T17:17:52.825310+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4-2 were changed from Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851 to Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851; Retinitis pigmentosa, MONDO:0019200, RNU4-2 related",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-19T17:17:27.411410+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU4-2 were set to 38991538; 40297424",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-19T17:17:04.835497+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU4-2: Added comment: PMID 39830270: Reports 36 individuals from 13 unrelated families with heterozygous dominant variants n.18_19insA and n.56T>C in RNU4-2 presenting with autosomal dominant retinitis pigmentosa (adRP). Night‑blindness and progressive peripheral vision loss start in late adolescence/early adulthood, with classic RP fundus changes, cystoid macular edema, and cataracts. Both inherited and de novo cases are observed. Immunoprecipitation assays demonstrate increased association of mutant U4 snRNA with di‑snRNP proteins SART3 and PRPF31, indicating a gain‑of‑function/dominant‑negative effect on snRNP biogenesis. PREPRINT; Changed publications: 38991538, 40297424, 39830270; Changed phenotypes: Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851, Retinitis pigmentosa, MONDO:0019200, RNU4-2 related",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-19T17:16:44.391978+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU4-2 as ready",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-19T17:16:44.380788+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.235",
"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": "2026-01-19T17:09:44.292971+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU4-2 as Green List (high evidence)",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-19T17:09:44.286373+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.235",
"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": "2026-01-19T17:09:37.892133+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU4-2.",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-19T17:09:30.235187+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU4-2 was added\ngene: RNU4-2 was added to Retinitis pigmentosa. Sources: Literature\nMode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNU4-2 were set to 39830270\nPhenotypes for gene: RNU4-2 were set to Retinitis pigmentosa, MONDO:0019200, RNU4-2 related\nReview for gene: RNU4-2 was set to GREEN\nAdded comment: Reports 36 individuals from 13 unrelated families with heterozygous dominant variants n.18_19insA and n.56T>C in RNU4-2 presenting with autosomal dominant retinitis pigmentosa (adRP). Night‑blindness and progressive peripheral vision loss start in late adolescence/early adulthood, with classic RP fundus changes, cystoid macular edema, and cataracts. Both inherited and de novo cases are observed. Immunoprecipitation assays demonstrate increased association of mutant U4 snRNA with di‑snRNP proteins SART3 and PRPF31, indicating a gain‑of‑function/dominant‑negative effect on snRNP biogenesis.\r\n\r\nPREPRINT \nSources: Literature",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-19T17:07:45.876972+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag non-coding gene tag was added to gene: RNU4-2.",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2026-01-19T17:05:31.377980+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP1M2 as ready",
"entity_name": "AP1M2",
"entity_type": "gene"
},
{
"created": "2026-01-19T17:05:31.369954+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1m2 has been classified as Red List (Low Evidence).",
"entity_name": "AP1M2",
"entity_type": "gene"
},
{
"created": "2026-01-19T17:03:50.537907+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.41",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene AP1M2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-19T17:03:50.336432+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP1M2 was added\ngene: AP1M2 was added to Autoinflammatory Disorders. Sources: Expert Review Red,Literature\nMode of inheritance for gene: AP1M2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP1M2 were set to 41451456\nPhenotypes for gene: AP1M2 were set to Inborn error of immunity, MONDO:0003778",
"entity_name": "AP1M2",
"entity_type": "gene"
},
{
"created": "2026-01-19T17:02:58.064681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP1M2 as ready",
"entity_name": "AP1M2",
"entity_type": "gene"
},
{
"created": "2026-01-19T17:02:58.057151+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1m2 has been classified as Red List (Low Evidence).",
"entity_name": "AP1M2",
"entity_type": "gene"
},
{
"created": "2026-01-19T17:02:05.198487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP1M2 was added\ngene: AP1M2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AP1M2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP1M2 were set to 41451456\nPhenotypes for gene: AP1M2 were set to Inborn error of immunity, MONDO:0003778\nReview for gene: AP1M2 was set to RED\nAdded comment: PMID 41451456 reports a single individual with biallelic splice‑site loss‑of‑function variant presenting with early‑onset autoinflammatory disease with severe colitis, failure‑to‑thrive, and perianal fistula. Functional studies demonstrate exon 10 skipping, loss of μ‑subunit interaction with TGN38, NF‑κB hyperactivation, and colitis in Ap1m2‑deficient mice that is rescued by TNFR1 knockout. \nSources: Literature",
"entity_name": "AP1M2",
"entity_type": "gene"
},
{
"created": "2026-01-19T16:59:15.441423+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA3 as ready",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2026-01-19T16:59:15.429633+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa3 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2026-01-19T16:58:37.281602+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.610",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene NDUFA3 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-19T16:58:36.798952+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFA3 was added\ngene: NDUFA3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: NDUFA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFA3 were set to 41038977; 39661167\nPhenotypes for gene: NDUFA3 were set to Mitochondrial disease, MONDO:0044970,NDUFA3-related",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2026-01-19T16:57:41.041590+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA3 as Green List (high evidence)",
"entity_name": "NDUFA3",
"entity_type": "gene"
}
]
}