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{
"count": 220451,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=71",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=69",
"results": [
{
"created": "2026-01-01T17:01:14.483370+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 39937650 reports four individuals from four unrelated families with heterozygous de novo missense PRMT1 variants presenting with neurodevelopmental disorder and dystonia. Functional studies demonstrated reduced protein stability and enzymatic activity, supporting a loss‑of‑function mechanism. \nSources: Literature; to: PMID 39937650 reports four individuals from four unrelated families with heterozygous de novo missense PRMT1 variants presenting with neurodevelopmental disorder and dystonia (in two). Functional studies demonstrated reduced protein stability and enzymatic activity, supporting a loss‑of‑function mechanism.\r\n\r\nTwo of the individuals had the same variant, p.Glu291Lys.\r\n\r\nSources: Literature",
"entity_name": "PRMT1",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:59:13.619886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRMT1 was added\ngene: PRMT1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PRMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PRMT1 were set to 39937650\nPhenotypes for gene: PRMT1 were set to Neurodevelopmental disorder, MONDO:0700092\nReview for gene: PRMT1 was set to GREEN\nAdded comment: PMID 39937650 reports four individuals from four unrelated families with heterozygous de novo missense PRMT1 variants presenting with neurodevelopmental disorder and dystonia. Functional studies demonstrated reduced protein stability and enzymatic activity, supporting a loss‑of‑function mechanism. \nSources: Literature",
"entity_name": "PRMT1",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:58:14.520501+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC4 as ready",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:58:14.510363+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:58:03.514079+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC4 as ready",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:58:03.503346+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc4 has been classified as Red List (Low Evidence).",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:57:59.274935+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC4 as Red List (low evidence)",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:57:59.265101+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc4 has been classified as Red List (Low Evidence).",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:57:33.386192+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EXOSC4: Changed rating: RED",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:55:35.626037+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene EXOSC4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-01T16:55:32.533074+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOSC4 was added\ngene: EXOSC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: EXOSC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC4 were set to 39009343; 37961665; 36344539\nPhenotypes for gene: EXOSC4 were set to Neurodevelopmental disorder, MONDO:0700092",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:54:52.302435+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.3",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene EXOSC4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-01T16:54:51.990438+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOSC4 was added\ngene: EXOSC4 was added to Brain Calcification. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: EXOSC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC4 were set to 39009343; 37961665; 36344539\nPhenotypes for gene: EXOSC4 were set to Neurodevelopmental disorder, MONDO:0700092",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:53:30.556098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC4 as ready",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:53:30.548677+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:53:21.532870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC4 as Amber List (moderate evidence)",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:53:21.526245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:53:00.854341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOSC4 was added\ngene: EXOSC4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EXOSC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC4 were set to 39009343; 37961665; 36344539\nPhenotypes for gene: EXOSC4 were set to Neurodevelopmental disorder, MONDO:0700092\nReview for gene: EXOSC4 was set to AMBER\nAdded comment: PMID 37961665, 39009343 and 39982806 all report the same family with two affected siblings and a homozygous missense p.Leu187Pro variant. Reported clinical features include severe neurodevelopmental disorder with prenatal growth restriction, failure to thrive, global developmental delay, intracerebral/basal‑ganglia calcifications, renal failure and brain atrophy. Functional data in yeast and mammalian cells support pathogenicity. One additional family (PMID 36344539) reported with brain atrophy but limited other detail. \nSources: Literature",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:48:29.061740+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: NDUFA4.",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2025-12-31T20:05:03.931327+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM2A as ready",
"entity_name": "KDM2A",
"entity_type": "gene"
},
{
"created": "2025-12-31T20:05:03.920297+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm2a has been classified as Green List (High Evidence).",
"entity_name": "KDM2A",
"entity_type": "gene"
},
{
"created": "2025-12-31T20:04:37.029948+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM2A were set to ",
"entity_name": "KDM2A",
"entity_type": "gene"
},
{
"created": "2025-12-31T20:04:05.945131+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM2A as ready",
"entity_name": "KDM2A",
"entity_type": "gene"
},
{
"created": "2025-12-31T20:04:05.937581+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm2a has been classified as Green List (High Evidence).",
"entity_name": "KDM2A",
"entity_type": "gene"
},
{
"created": "2025-12-31T19:01:03.048509+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.388",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene KDM2A from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-31T19:01:02.694741+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM2A was added\ngene: KDM2A was added to Microcephaly. Sources: Expert Review Green,Other\nMode of inheritance for gene: KDM2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM2A were set to 41468891\nPhenotypes for gene: KDM2A were set to Neurodevelopmental disorder, MONDO:0700092, KDM2A-related",
"entity_name": "KDM2A",
"entity_type": "gene"
},
{
"created": "2025-12-31T19:00:24.198448+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.535",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene KDM2A from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-31T18:59:38.779440+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene KDM2A from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-31T18:59:38.702704+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM2A was added\ngene: KDM2A was added to Growth failure. Sources: Expert Review Green,Other\nMode of inheritance for gene: KDM2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM2A were set to 41468891\nPhenotypes for gene: KDM2A were set to Neurodevelopmental disorder, MONDO:0700092, KDM2A-related",
"entity_name": "KDM2A",
"entity_type": "gene"
},
{
"created": "2025-12-31T18:59:10.937550+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM2A were set to ",
"entity_name": "KDM2A",
"entity_type": "gene"
},
{
"created": "2025-12-31T18:58:53.716159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 41468891; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, KDM2A-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM2A",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:56:05.499201+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THBD were changed from {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926; Bleeding disorder to Thrombophilia 12 due to thrombomodulin defect, MIM# 614486",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:55:44.951068+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THBD were set to 29500241; 19625716; 25564403; 32634856",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:55:16.853253+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THBD: Changed publications: 29500241, 19625716, 25564403, 32634856, 39841007, 34474479; Changed phenotypes: Thrombophilia 12 due to thrombomodulin defect, MIM# 614486",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:54:25.166486+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THBD: Added comment: Association with bleeding disorders:\r\n\r\nPMID 39841007: identified 8 THBD variants for 6 patients with a thrombotic (C175S, A282P, L433P, P501L, G502R, and P508L) and 2 patients with a bleeding (P260A and T478I) phenotypes from a large cohort. Functional evidence supporting pathogenicity only generated for two of the variants, functional effects of L433P and potentially C175S.\r\n\r\nPMID 34474479: single individual with homozygous missense variant, c.793T>A (p.Cys265Ser) and potentially life-threatening bleeding events.; Changed rating: GREEN; Changed phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926, Thrombophilia 12 due to thrombomodulin defect, MIM# 614486",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:53:23.163302+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THBD were changed from Bleeding disorder to Thrombophilia 12 due to thrombomodulin defect, MIM# 614486",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:52:55.269516+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THBD were set to 32634856; 25564403; 32935436; 25049278; 27436851; 28267383; 10627464",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:52:16.935516+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THBD: Changed rating: GREEN",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:51:58.903732+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THBD: Added comment: PMID 39841007: identified 8 THBD variants for 6 patients with a thrombotic (C175S, A282P, L433P, P501L, G502R, and P508L) and 2 patients with a bleeding (P260A and T478I) phenotypes from a large cohort. Functional evidence supporting pathogenicity only generated for two of the variants, functional effects of L433P and potentially C175S.\r\n\r\nPMID 34474479: single individual with homozygous missense variant, c.793T>A (p.Cys265Ser) and potentially life-threatening bleeding events.; Changed publications: 25564403, 32634856, 39841007, 34474479; Changed phenotypes: Thrombophilia 12 due to thrombomodulin defect, MIM# 614486",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:45:26.111459+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFBI was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TGFBI",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:44:58.969446+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TGFBI: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TGFBI",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:44:35.150756+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGFBI were set to 9054935",
"entity_name": "TGFBI",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:44:17.280931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFBI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TGFBI",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:44:02.067627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TGFBI: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TGFBI",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:43:53.494760+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TGFBI: Added comment: Multiple individuals with biallelic variants and a more severe phenotype.; Changed publications: 9054935, 33772078",
"entity_name": "TGFBI",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:42:56.362884+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFBI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TGFBI",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:42:38.353154+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGFBI were set to 9054935",
"entity_name": "TGFBI",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:42:09.739997+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TGFBI: Added comment: Multiple biallelic cases reported with a more severe phenotype.; Changed publications: 9054935, 33772078; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TGFBI",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:29:11.316611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PGM3 were set to 30578875; 31231132; 33098103; 30157810; 28704707; 33193641",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:29:06.348224+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PGM3 were set to 30578875; 31231132; 33098103; 30157810; 28704707",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:28:40.830808+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PGM3: Changed publications: 30578875, 31231132, 33098103, 30157810, 28704707, 33193641",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:28:31.495838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: PGM3: Note also PMID 33193641 proposes association between heterozygous missense variants and idiopathic focal epilepsy. However, two of the four variants are inherited from asymptomatic parents and reduced penetrance invoked. Borderline RED/AMBER for this association.",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:23:53.724529+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX19 as ready",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:23:53.717243+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex19 has been classified as Green List (High Evidence).",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:23:51.179540+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX19 were changed from to Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:23:15.477907+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX19 were set to ",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:22:31.498805+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:21:48.582602+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene PEX19 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-31T14:20:09.147250+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX19 were set to ",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:19:45.874135+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:19:30.528732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 39757991, 36931687, 29282281; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:08:39.779626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MET were changed from Arthrogryposis, distal, type 11 (MIM#620019), AD; Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074; Papillary renal cell carcinoma MONDO:0017884 to Arthrogryposis, distal, type 11 (MIM#620019), AD; Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074; Papillary renal cell carcinoma MONDO:0017884; Osteofibrous dysplasia, susceptibility to} 607278",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:08:38.464407+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MET as ready",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:08:38.457710+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: met has been classified as Amber List (Moderate Evidence).",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:08:14.848655+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MET were set to 30777867",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:07:52.479597+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MET: Added comment: OSFD is characterized by radiolucent lesions located at the periosteal surface of the diaphyseal cortex, almost exclusively of the tibia and fibula. These lesions are congenital and spontaneously resolve during skeletal maturation. Three germline variants and one ?somatic variant identified in PMID 26637977, all abolished the splice inclusion of exon 14 in MET transcripts, which resulted in a MET receptor (MET(Δ14)) lacking a cytoplasmic juxtamembrane domain. Incomplete penetrance.\r\n\r\nAMBER for this association.; Changed publications: 30777867, 26637977; Changed phenotypes: Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074, Papillary renal cell carcinoma MONDO:0017884, {Osteofibrous dysplasia, susceptibility to} 607278",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:07:31.918862+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MET as Amber List (moderate evidence)",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:07:31.909147+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: met has been classified as Amber List (Moderate Evidence).",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:07:02.921361+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MET was added\ngene: MET was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MET were set to 26637977\nPhenotypes for gene: MET were set to {Osteofibrous dysplasia, susceptibility to}\t607278\nReview for gene: MET was set to AMBER\nAdded comment: OSFD is characterized by radiolucent lesions located at the periosteal surface of the diaphyseal cortex, almost exclusively of the tibia and fibula. These lesions are congenital and spontaneously resolve during skeletal maturation.\r\n\r\nThree germline variants and one ?somatic variant identified in PMID 26637977, all abolished the splice inclusion of exon 14 in MET transcripts, which resulted in a MET receptor (MET(Δ14)) lacking a cytoplasmic juxtamembrane domain. Incomplete penetrance. \nSources: Literature",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2025-12-31T14:00:52.908087+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MET: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:33:04.550703+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ2 as ready",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:33:04.539924+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq2 has been classified as Green List (High Evidence).",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:33:00.575563+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM# 607426; MONDO:0011829",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:32:39.273426+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ2 were set to ",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:32:11.940632+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:18:52.423886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACTN2: Added comment: Multiple cardiac and skeletal phenotypes associated with variants in this gene.\r\n\r\nAssociation with cardiomyopathy is established as is the adult-onset dominant skeletal myopathy.\r\n\r\nThere are only 2 unrelated individuals reported with congenital multiple‑structured‑core disease (MsCD), with de novo heterozygous variants.\r\n\r\nThe recessive adult‑onset ACTN2‑related myopathy has been reported in 5 families (7 patients) but all with homozygous p.Arg506Gly.\r\n\r\nThese two associations are AMBER.; Changed phenotypes: Myopathy, distal, 6, adult onset MIM#618655, Cardiomyopathy, hypertrophic, 23, with or without LVNC MIM#612158, Cardiomyopathy, dilated, 1AA, with or without LVNC MIM#612158, Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:11:10.937352+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome, MONDO:0060532; Congenital heart defects and skeletal malformations, OMIM:617602 to Congenital heart defects and skeletal malformations syndrome, MONDO:0060532; Congenital heart defects and skeletal malformations, OMIM:617602; Human ABL1 Deficiency Syndrome (HADS)",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:10:46.911169+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABL1 were set to 33461977; 28288113",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:10:33.412492+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:10:21.626721+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: New recessive gene-disease association - 3 consanguineous families reported.\r\n\r\nPMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.\r\n\r\nPMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1)\r\n\r\nPostulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype; to: New recessive gene-disease association - 3 consanguineous families reported. AMBER for this association and MOI.\r\n\r\nPMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.\r\n\r\nPMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1)\r\n\r\nPostulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:10:04.840402+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ABL1: Added comment: New recessive gene-disease association - 3 consanguineous families reported.\r\n\r\nPMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.\r\n\r\nPMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1)\r\n\r\nPostulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype; Changed publications: 33461977, 28288113, 39155385, 38743093; Changed phenotypes: Congenital heart defects and skeletal malformations syndrome, MIM# 617602, Human ABL1 Deficiency Syndrome (HADS); Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:08:33.062463+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome (MIM# 617602) to Congenital heart defects and skeletal malformations syndrome (MIM# 617602); Human ABL1 Deficiency Syndrome (HADS)",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:08:05.818737+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABL1 were set to PMID: 28288113",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:07:31.693623+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:07:07.808957+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: New gene-disease association - 3 consanguineous families reported.\r\n\r\nPMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.\r\n\r\nPMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1); to: New gene-disease association - 3 consanguineous families reported.\r\n\r\nPMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.\r\n\r\nPMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1)\r\n\r\nPostulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:06:50.393437+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Human ABL1 Deficiency Syndrome (HADS); Mode of inheritance: None",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:05:08.060870+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39155385, 38743093; Phenotypes: Human ABL1 Deficiency Syndrome (HADS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:03:53.680272+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome MIM#617602 to Congenital heart defects and skeletal malformations syndrome MIM#617602; Human ABL1 Deficiency Syndrome (HADS)",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:03:30.252985+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABL1 were set to PMID: 28288113; 30855488; 32643838",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-31T13:03:11.644629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:56:38.980000+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA16 as ready",
"entity_name": "SPATA16",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:56:38.969548+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata16 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPATA16",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:56:21.978765+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SPATA16 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-31T12:56:21.920664+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPATA16 was added\ngene: SPATA16 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: SPATA16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA16 were set to 17847006; 27086357; 29065458\nPhenotypes for gene: SPATA16 were set to Spermatogenic failure 6 MIM#102530; Spermatogenic failure 6 MONDO:0007060",
"entity_name": "SPATA16",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:52:45.074271+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSMF as ready",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:52:45.052275+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsmf has been classified as Red List (Low Evidence).",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:52:42.259787+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSMF were set to 15362570; 17235395; 21700882",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:52:29.921965+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NSMF: Added comment: PMIDs 31220265, 34348883, 35316923, 39010903, 39809967 report 10 unrelated families with heterozygous NSMF missense or truncating variants linked to functional hypogonadotropic hypogonadism, congenital hypogonadotropic hypogonadism, Kallmann syndrome, normosmic isolated HH, delayed‑puberty HH, and adult‑onset azoospermia. Variants are mostly classified as VUS; most are present in gnomAD, some at implausibly high frequencies; no functional assays or robust segregation data are provided. Therefore retain Red rating.; Changed publications: 15362570, 17235395, 21700882, 31220265, 34348883, 35316923, 39010903, 39809967; Changed phenotypes: Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:48:51.136813+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSMF were set to 15362570; 17235395; 21700882",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:48:23.315277+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NSMF: Changed publications: 15362570, 17235395, 21700882, 31220265, 34348883, 35316923, 39010903, 39809967",
"entity_name": "NSMF",
"entity_type": "gene"
}
]
}