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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=271",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=269",
"results": [
{
"created": "2025-04-09T23:04:56.327493+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nobox has been classified as Green List (High Evidence).",
"entity_name": "NOBOX",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:04:17.810138+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSH4 as ready",
"entity_name": "MSH4",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:04:17.804264+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msh4 has been classified as Green List (High Evidence).",
"entity_name": "MSH4",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:04:09.874574+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MSH4 as Green List (high evidence)",
"entity_name": "MSH4",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:04:09.868173+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msh4 has been classified as Green List (High Evidence).",
"entity_name": "MSH4",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:03:41.895816+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FSHR as ready",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:03:41.887999+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fshr has been classified as Green List (High Evidence).",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:03:35.033489+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FSHR as Green List (high evidence)",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:03:35.026666+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fshr has been classified as Green List (High Evidence).",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:03:23.763228+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FSHR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarian dysgenesis 1 MONDO:0024463, Ovarian hyperstimulation syndrome MONDO:0011972; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:02:19.345345+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FSHB as ready",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:02:19.335865+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fshb has been classified as Green List (High Evidence).",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:02:11.739878+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FSHB as Green List (high evidence)",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:02:11.732195+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fshb has been classified as Green List (High Evidence).",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:01:54.330637+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELL3 as ready",
"entity_name": "ELL3",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:01:54.324065+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ell3 has been classified as Green List (High Evidence).",
"entity_name": "ELL3",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:01:50.155088+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELL3 were changed from to Pregnancy loss, recurrent, susceptibility to, MONDO:0000144, ELL3-related",
"entity_name": "ELL3",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:00:18.868135+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ELL3 as Green List (high evidence)",
"entity_name": "ELL3",
"entity_type": "gene"
},
{
"created": "2025-04-09T23:00:18.862058+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ell3 has been classified as Green List (High Evidence).",
"entity_name": "ELL3",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:59:52.730800+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH8 as ready",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:59:52.720897+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah8 has been classified as Green List (High Evidence).",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:59:48.328735+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH8 as Green List (high evidence)",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:59:48.322127+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah8 has been classified as Green List (High Evidence).",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:59:31.430681+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH1 as ready",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:59:31.424097+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah1 has been classified as Green List (High Evidence).",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:59:06.118404+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH1 as Green List (high evidence)",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:59:06.108797+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah1 has been classified as Green List (High Evidence).",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:58:45.263665+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHH as ready",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:58:45.257220+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhh has been classified as Green List (High Evidence).",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:58:37.816514+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHH as Green List (high evidence)",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:58:37.810043+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhh has been classified as Green List (High Evidence).",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:58:10.322598+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPEB1 as ready",
"entity_name": "CPEB1",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:58:10.315896+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpeb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CPEB1",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:58:07.191353+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CPEB1 were changed from Primary ovarian insufficiency, MONDO:0005387 to Primary ovarian insufficiency, MONDO:0005387, CPEB1-related",
"entity_name": "CPEB1",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:57:53.063899+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPEB1 as Amber List (moderate evidence)",
"entity_name": "CPEB1",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:57:53.057722+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpeb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CPEB1",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:57:42.562522+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CPEB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ovarian insufficiency, MONDO:0005387, CPEB1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CPEB1",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:55:42.996101+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CPEB1.",
"entity_name": "CPEB1",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:55:01.825206+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFTR as ready",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:55:01.815083+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cftr has been classified as Green List (High Evidence).",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:54:55.987380+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFTR as Green List (high evidence)",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:54:55.977790+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cftr has been classified as Green List (High Evidence).",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:54:40.131903+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMHR2 as ready",
"entity_name": "AMHR2",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:54:40.125016+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amhr2 has been classified as Green List (High Evidence).",
"entity_name": "AMHR2",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:54:32.933141+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMHR2 as Green List (high evidence)",
"entity_name": "AMHR2",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:54:32.926816+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amhr2 has been classified as Green List (High Evidence).",
"entity_name": "AMHR2",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:54:19.787770+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMH as ready",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:54:19.781731+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amh has been classified as Green List (High Evidence).",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:54:14.098309+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMH as Green List (high evidence)",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:54:14.089312+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amh has been classified as Green List (High Evidence).",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:53:50.048509+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AARS2 as ready",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:53:50.039480+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aars2 has been classified as Green List (High Evidence).",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:53:41.405468+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AARS2 as Green List (high evidence)",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2025-04-09T22:53:41.399138+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aars2 has been classified as Green List (High Evidence).",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2025-04-09T20:59:07.838426+10:00",
"panel_name": "Arrhythmia_SuperPanel",
"panel_id": 254,
"panel_version": "3.28",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from promoted to public\nChanged child panels to: Short QT syndrome; Atrial Fibrillation; Cardiac conduction disease; Arrhythmogenic Cardiomyopathy; Long QT Syndrome; Catecholaminergic Polymorphic Ventricular Tachycardia; Brugada syndrome; Ventricular Fibrillation",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-04-09T20:56:28.938886+10:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-04-09T20:56:11.615102+10:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-04-09T20:53:14.799382+10:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "GNB2",
"entity_type": "gene"
},
{
"created": "2025-04-09T20:53:01.590425+10:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GNB2 was added\ngene: GNB2 was added to Cardiac conduction disease. Sources: Literature\nMode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNB2 were set to 28219978\nPhenotypes for gene: GNB2 were set to Sick sinus syndrome 4, MIM# 619464\nReview for gene: GNB2 was set to RED\nAdded comment: Sources: Literature",
"entity_name": "GNB2",
"entity_type": "gene"
},
{
"created": "2025-04-09T20:38:26.071204+10:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GJA5 as ready",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2025-04-09T20:38:26.062087+10:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gja5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2025-04-09T20:38:15.562101+10:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GJA5 as Amber List (moderate evidence)",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2025-04-09T20:38:15.555394+10:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gja5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2025-04-09T20:38:04.321508+10:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GJA5 was added\ngene: GJA5 was added to Cardiac conduction disease. Sources: NHS GMS\nMode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GJA5 were set to 9501069; 10086977; 22247482; 36352534\nPhenotypes for gene: GJA5 were set to heart conduction disease MONDO:0000992\nReview for gene: GJA5 was set to AMBER\nAdded comment: PMID: 9501069, 10086977 - null mouse model with cardiac conduction abnormalities characteristic of first-degree atrioventricular block with associated bundle branch block\r\nPMID: 22247482 - Q58L (absent from gnomAD v4) identified in a proband with progressive familial heart block, segregated to affected sibling and was likely present in mother that died of sudden cardiac death (the variant was absent from the probands father and maternal grandparents, suggesting the variant is de novo in the probands mother but no DNA was available for testing). In vitro functional assays showed the variant (Cx40-Q58L) impairs gap junction formation at cell-cell interfaces. \r\nPMID: 36352534 - a VUS p.(Arg316His) was identified in a case with idiopathic atrioventricular conduction disease. 49 hets in gnomAD v4. \nSources: NHS GMS",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2025-04-09T18:27:30.954573+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: i) PMID: 23378580 (2013)- Identified nine splicing, four missense and two nonsense alterations in unrelated oligospermic patients, majority are heterozygous, only 3 were homozygous. Their findings suggested that two distinct molecular mechanisms, mRNA editing and splicing processing, were disrupted in oligozoospermia.\r\n\r\nii) PMID: 26223869 (2015): reported four known and novel heterozygous variants in idiopathic azoospermia (IA) patient in the Chinese pop, and one of the missense variant was demonstrated to inhibit the transcriptional regulation activity of SP1 transcription factor, suggesting that it confers a high risk for IA.\r\n\r\niii) PMID: 12784252 (2003)- Ube2b(-/-) mice were shown to present male infertility and their sperm head shape anomalies suggested that Ube2b may be involved in the replacement of nuclear proteins during spermatid chromatin condensation. \r\nSources: Literature; to: i) PMID: 23378580 (2013)- Identified nine splicing, four missense and two nonsense alterations in unrelated oligospermic patients, majority are heterozygous, only 3 were homozygous. Their findings suggested that two distinct molecular mechanisms, mRNA editing and splicing processing, were disrupted in oligozoospermia.\r\n\r\nii) PMID: 26223869 (2015): Reported four known and novel heterozygous variants in idiopathic azoospermia (IA) patients in the Chinese population, and one of the missense variant was demonstrated to inhibit the transcriptional regulation activity of SP1 transcription factor, suggesting that it confers a high risk for IA.\r\n\r\niii) PMID: 12784252 (2003)- Ube2b(-/-) mice were shown to present male infertility and their sperm head shape anomalies suggested that Ube2b may be involved in the replacement of nuclear proteins during spermatid chromatin condensation. \r\nSources: Literature",
"entity_name": "UBE2B",
"entity_type": "gene"
},
{
"created": "2025-04-09T18:26:58.147312+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: UBE2B: Changed rating: GREEN",
"entity_name": "UBE2B",
"entity_type": "gene"
},
{
"created": "2025-04-09T18:26:51.976739+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: i) PMID: 23378580 (2013)- identified nine splicing, four missense and two nonsense alterations in unrelated oligospermic patients, majority are heterozygous, only 3 were homozygous.\r\n\r\nii) PMID: 26223869 (2015): reported four known and novel heterozygous variants in idiopathic azoospermia (IA) patient in the Chinese pop, and one of the missense variant was demonstrated to inhibit the transcriptional regulation activity of SP1 transcription factor, suggesting that it confers a high risk for IA.\r\n\r\niii) PMID: 12784252 (2003)- Ube2b(-/-) mice were shown to present male infertility and their sperm head shape anomalies suggested that Ube2b may be involved in the replacement of nuclear proteins during spermatid chromatin condensation. \nSources: Literature; to: i) PMID: 23378580 (2013)- Identified nine splicing, four missense and two nonsense alterations in unrelated oligospermic patients, majority are heterozygous, only 3 were homozygous. Their findings suggested that two distinct molecular mechanisms, mRNA editing and splicing processing, were disrupted in oligozoospermia.\r\n\r\nii) PMID: 26223869 (2015): reported four known and novel heterozygous variants in idiopathic azoospermia (IA) patient in the Chinese pop, and one of the missense variant was demonstrated to inhibit the transcriptional regulation activity of SP1 transcription factor, suggesting that it confers a high risk for IA.\r\n\r\niii) PMID: 12784252 (2003)- Ube2b(-/-) mice were shown to present male infertility and their sperm head shape anomalies suggested that Ube2b may be involved in the replacement of nuclear proteins during spermatid chromatin condensation. \r\nSources: Literature",
"entity_name": "UBE2B",
"entity_type": "gene"
},
{
"created": "2025-04-09T18:25:29.838483+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: UBE2B was added\ngene: UBE2B was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: UBE2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: UBE2B were set to 23378580; 26223869; 12784252\nPhenotypes for gene: UBE2B were set to Male infertility, MONDO:0005372\nAdded comment: i) PMID: 23378580 (2013)- identified nine splicing, four missense and two nonsense alterations in unrelated oligospermic patients, majority are heterozygous, only 3 were homozygous.\r\n\r\nii) PMID: 26223869 (2015): reported four known and novel heterozygous variants in idiopathic azoospermia (IA) patient in the Chinese pop, and one of the missense variant was demonstrated to inhibit the transcriptional regulation activity of SP1 transcription factor, suggesting that it confers a high risk for IA.\r\n\r\niii) PMID: 12784252 (2003)- Ube2b(-/-) mice were shown to present male infertility and their sperm head shape anomalies suggested that Ube2b may be involved in the replacement of nuclear proteins during spermatid chromatin condensation. \nSources: Literature",
"entity_name": "UBE2B",
"entity_type": "gene"
},
{
"created": "2025-04-09T18:16:42.922286+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: DNAH8 was added\ngene: DNAH8 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DNAH8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH8 were set to 32619401; 32681648; 36308074; 33704367\nPhenotypes for gene: DNAH8 were set to Spermatogenic failure 46, MIM# 619095\nReview for gene: DNAH8 was set to GREEN\nAdded comment: Literature in OMIM- PMID: 32619401;32681648- multiple cases with multiple morphologic abnormalities of the sperm flagella (MMAF) carrying biallelic variants\r\n\r\nNew papers: \r\ni) PMID: 36308074- A novel homozygous frameshift variant in DNAH8 causes MMAF in a consanguineous Pakistani family. Reverse transcription-polymerase chain reaction (RT-PCR) confirmed DNAH8 mRNA decay in these patients with the DNAH8 variant. Hematoxylin-eosin staining and transmission electron microscopy revealed highly divergent morphology and ultrastructure of sperm flagella in these patients. Immunofluorescence assay also showed the absence of DNAH8 and a reduction in its associated protein DNAH17 in the patients' spermatozoa.\r\n\r\nii) PMID: 33704367- Two unrelated infertile Chinese patients with MMAF carrying different compound heterozygous variants. Immunofluorescence assay showed that DNAH8 protein expression was significantly decreased in the sperm tail of the patients, and electron microscopy exhibited an abnormal flagellum ultrastructure, while clinical pregnancy could be achieved by intracytoplasmic sperm injection. \nSources: Literature",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2025-04-09T18:09:36.567123+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Literature in OMIM- PMID: 24360805, 27798045, 27573432, 28552195, 28577616, 29449551- multiple unrelated cases with multiple morphological abnormalities of the sperm flagella (MMAF) \nSources: Literature; to: Literature in OMIM- PMID: 24360805, 27798045, 27573432, 28552195, 28577616, 29449551- multiple unrelated cases with multiple morphological abnormalities of the sperm flagella (MMAF) carrying biallelic variants\r\nSources: Literature",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2025-04-09T18:09:05.806584+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: DNAH1 was added\ngene: DNAH1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DNAH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH1 were set to 24360805; 27798045; 27573432; 28552195; 28577616; 29449551\nPhenotypes for gene: DNAH1 were set to Spermatogenic failure 18 , MIM# 617576\nReview for gene: DNAH1 was set to GREEN\nAdded comment: Literature in OMIM- PMID: 24360805, 27798045, 27573432, 28552195, 28577616, 29449551- multiple unrelated cases with multiple morphological abnormalities of the sperm flagella (MMAF) \nSources: Literature",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2025-04-09T18:05:20.214520+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: DHH was added\ngene: DHH was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DHH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHH were set to 25927242; 28589169; 28708305; 29471294; 40176231\nPhenotypes for gene: DHH were set to 46XY gonadal dysgenesis with minifascicular neuropathy, MIM# 607080\nReview for gene: DHH was set to GREEN\nAdded comment: Literature in OMIM- PubMed: 25927242; 28589169; 28708305; 29471294- biallelic variants in affected women with primary amenorrhea, also one woman from PMID:29471294 had 2 uneventful pregnancies.\r\n\r\nNew paper: \r\nPMID: 40176231-novel homozygous missense variant (P. Ser185Pro) in an Indian female with primary amenorrhea and severe motor and sensory neuropathy with Charcot's joints. \nSources: Literature",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2025-04-09T17:52:55.579378+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: i) PMID: 32354341 (2020)- heterozygous deletion of exons 8-12 in a Chinese patient with primary amenorrhea.\r\n\r\nii) PMID: 33095795 (2020)- heterozygous 83.8-kb deletion (in the similar region reported previously) and a heterozygous missense variant (p.R87C) reported in two Brazilian female with POI (POI-4, POI-14).\r\n\r\niii) PMID: 27003306 (2016)- identified three POI patients carrying overlapping microdeletions disrupting CPEB1, which is the only gene known to be involved in reproduction in the deleted regions. Also suggested given that CEPB1 is located in a chromosomal region containing LCRs, the involvement of this gene in POI can be hypothesized to be related to microdeletions in the 15q25.2 region rather than to CPEB1 variants. \r\n\r\niv) PMID: 21256485 (2011)- POF-87 with novel heterozygous microdeletion including CPEB1 (1.67 Mb del including the entire CPEB1). \nSources: Literature; to: i) PMID: 32354341 (2020)- heterozygous deletion of exons 8-12 in a Chinese patient with primary amenorrhea.\r\n\r\nii) PMID: 33095795 (2020)- heterozygous 83.8-kb deletion (in the similar region reported previously) and a heterozygous missense variant (p.R87C) reported in two Brazilian female with POI (POI-4, POI-14).\r\n\r\niii) PMID: 27003306 (2016)- identified three POI patients carrying overlapping microdeletions disrupting CPEB1, which is the only gene known to be involved in reproduction in the deleted regions. Also suggested given that CEPB1 is located in a chromosomal region containing LCRs, the involvement of this gene in POI can be hypothesized to be related to microdeletions in the 15q25.2 region rather than to CPEB1 variants. \r\n\r\niv) PMID: 21256485 (2011)- POF-87 with novel heterozygous microdeletion including CPEB1 (1.67 Mb del including the entire CPEB1). \r\n\r\nNote: CPEB1 dosage sensitivity curation pending review\r\nSources: Literature",
"entity_name": "CPEB1",
"entity_type": "gene"
},
{
"created": "2025-04-09T17:50:15.159723+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: CPEB1 was added\ngene: CPEB1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CPEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CPEB1 were set to 21256485; 27003306; 33095795; 32354341\nPhenotypes for gene: CPEB1 were set to Primary ovarian insufficiency, MONDO:0005387\nReview for gene: CPEB1 was set to GREEN\nAdded comment: i) PMID: 32354341 (2020)- heterozygous deletion of exons 8-12 in a Chinese patient with primary amenorrhea.\r\n\r\nii) PMID: 33095795 (2020)- heterozygous 83.8-kb deletion (in the similar region reported previously) and a heterozygous missense variant (p.R87C) reported in two Brazilian female with POI (POI-4, POI-14).\r\n\r\niii) PMID: 27003306 (2016)- identified three POI patients carrying overlapping microdeletions disrupting CPEB1, which is the only gene known to be involved in reproduction in the deleted regions. Also suggested given that CEPB1 is located in a chromosomal region containing LCRs, the involvement of this gene in POI can be hypothesized to be related to microdeletions in the 15q25.2 region rather than to CPEB1 variants. \r\n\r\niv) PMID: 21256485 (2011)- POF-87 with novel heterozygous microdeletion including CPEB1 (1.67 Mb del including the entire CPEB1). \nSources: Literature",
"entity_name": "CPEB1",
"entity_type": "gene"
},
{
"created": "2025-04-09T17:36:48.028076+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: CFTR was added\ngene: CFTR was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFTR were set to 30214069; 40169970; 39592508; 39356031\nPhenotypes for gene: CFTR were set to Congenital bilateral absence of vas deferens, MIM# 277180\nReview for gene: CFTR was set to GREEN\nAdded comment: OMIM- Found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives; PMID: 30214069\r\n\r\nNew case reports- PMID: 40169970; 39592508; 39356031 \nSources: Literature",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2025-04-09T17:32:40.120559+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: AMHR2 was added\ngene: AMHR2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: AMHR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMHR2 were set to 7493017; 8872466; 19457927; 35052499; 33025551; 34480531\nPhenotypes for gene: AMHR2 were set to Persistent Mullerian duct syndrome, type I, MIM #261550\nReview for gene: AMHR2 was set to GREEN\nAdded comment: Literature in OMIM- PMID: 7493017; 8872466;19457927\r\n\r\nNew papers:\r\ni) PMID: 35052499- compound heterozygous variants in case 2 and case 3 with azoospermia/oligospermia.\r\n\r\nii) PMID: 33025551- seven different variants identified in 11 cases from six unrelated Turkish families with PMDS (didn't mention if they were infertile).\r\n\r\niii) PMID: 34480531- compound heterozygous variants of c.1387C>T (p.R463C) and c.1219C>T (p.R407X) in exons 9 and 10, respectively, in two brothers who had a history of bilateral cryptorchidism with orchidopexy as well as infertility due to azoospermia. \nSources: Literature",
"entity_name": "AMHR2",
"entity_type": "gene"
},
{
"created": "2025-04-09T17:30:02.345230+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Literature in OMIM- PMID: 2023927;1483695;11760020\r\n\r\nNew papers: \r\ni) PMID: 39889328 - novel homozygous missense p.Pro550Leu in a Tuscinian man with primary infertilitydue to Persistent Müllerian duct syndrome and biopsy revealed no spermatozoa\r\n \r\nii) PMID: 35052499- homozygous 4-bp deletion; c.321_324del:p.Q109Lfs*29 in exon 1 in case 1 with non-obstructive azoospermia, leading to the loss of function of AMH. \r\n; to: Literature in OMIM- PMID: 2023927;1483695;11760020\r\n\r\nNew papers: \r\ni) PMID: 39889328 - novel homozygous missense p.Pro550Leu in a Tuscinian man with primary infertility due to Persistent Müllerian duct syndrome and biopsy revealed no spermatozoa.\r\n \r\nii) PMID: 35052499- homozygous 4-bp deletion; c.321_324del:p.Q109Lfs*29 in exon 1 in case 1 with non-obstructive azoospermia, leading to the loss of function of AMH. \r\n",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2025-04-09T17:29:52.724329+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Literature in OMIM- PMID: 2023927;1483695;11760020\r\n\r\nNew papers: \r\ni) PMID: 39889328 - novel homozygous missense p.Pro550Leu in a Tuscinian man with primary infertilitydue to Persistent Müllerian duct syndrome and biopsy revealed no spermatozoa\r\n \r\nii) PMID: 35052499- case 1 with non-obstructive azoospermia carrying homozygous 4-bp deletion; c.321_324del:p.Q109Lfs*29 in exon 1 of AMH, leading to the loss of function of AMH. \nSources: Literature; to: Literature in OMIM- PMID: 2023927;1483695;11760020\r\n\r\nNew papers: \r\ni) PMID: 39889328 - novel homozygous missense p.Pro550Leu in a Tuscinian man with primary infertilitydue to Persistent Müllerian duct syndrome and biopsy revealed no spermatozoa\r\n \r\nii) PMID: 35052499- homozygous 4-bp deletion; c.321_324del:p.Q109Lfs*29 in exon 1 in case 1 with non-obstructive azoospermia, leading to the loss of function of AMH. \r\n",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2025-04-09T17:29:15.785360+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: AMH was added\ngene: AMH was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: AMH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMH were set to 2023927; 1483695; 11760020; 39889328; 35052499\nPhenotypes for gene: AMH were set to Persistent Mullerian duct syndrome, type I, MIM# 261550\nReview for gene: AMH was set to GREEN\nAdded comment: Literature in OMIM- PMID: 2023927;1483695;11760020\r\n\r\nNew papers: \r\ni) PMID: 39889328 - novel homozygous missense p.Pro550Leu in a Tuscinian man with primary infertilitydue to Persistent Müllerian duct syndrome and biopsy revealed no spermatozoa\r\n \r\nii) PMID: 35052499- case 1 with non-obstructive azoospermia carrying homozygous 4-bp deletion; c.321_324del:p.Q109Lfs*29 in exon 1 of AMH, leading to the loss of function of AMH. \nSources: Literature",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2025-04-09T17:26:38.486149+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: AARS2: Changed phenotypes: Progressive leukoencephalopathy with ovarian failure, MIM# 615889",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2025-04-09T17:26:13.669790+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: AARS2 was added\ngene: AARS2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AARS2 were set to 24808023; 32775515; 31280959; 29749055\nPhenotypes for gene: AARS2 were set to Leukoencephalopathy, progressive, with ovarian failure, MIM# 615889\nReview for gene: AARS2 was set to GREEN\nAdded comment: Literature in OMIM- PMID:24808023- compound heterozygous missense variants in 5 women with premature ovarian failure among 6 with progressive leukoencephalopathy, and studies of the yeast homologs of 2 variants (F50C and R521X) showed that they resulted in a complete or partial loss of protein function.\r\n\r\nNew papers- case reports of biallelic variants in patients with POIPOF\r\n- PMID:32775515; 31280959; 29749055 \nSources: Literature",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2025-04-09T16:45:36.922430+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: NUP107: Rating: GREEN; Mode of pathogenicity: None; Publications: 28280135, 28117080, 30179222, 25558065, 26411495; Phenotypes: Galloway-Mowat syndrome 7, MIM#618348, Nephrotic syndrome, type 11, MIM#616730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2025-04-09T16:27:22.823958+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19508677, 26030781; Phenotypes: Adrenal hypoplasia, congenital, MIM#300200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2025-04-09T16:04:05.670018+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811136, 34405929, 12754703, 26008862, 30770271, 19167255; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, MIM#618229, MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2025-04-09T15:51:08.779874+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2025-04-09T10:37:07.087434+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATP11A as ready",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2025-04-09T10:37:07.080332+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp11a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2025-04-09T10:28:30.302050+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP11A as Amber List (moderate evidence)",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2025-04-09T10:28:30.295274+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp11a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2025-04-09T10:27:04.172816+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.320",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ATP11A were set to PMID: 34403372",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2025-04-09T10:26:45.608044+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.319",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP11A as Green List (high evidence)",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2025-04-09T10:26:45.601167+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.319",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp11a has been classified as Green List (High Evidence).",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2025-04-09T10:08:25.422044+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.134",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TRPM4 were set to 30528822",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2025-04-09T10:08:00.907165+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TRPM4 as Amber List (moderate evidence)",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2025-04-09T10:08:00.895934+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: trpm4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2025-04-09T10:07:39.098802+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: Other; Publications: 30528822, 36341417, 35796031; Phenotypes: erythrokeratodermia variabilis MONDO:0017851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2025-04-09T09:09:20.815112+10:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TRPM4 as ready",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2025-04-09T09:09:20.807666+10:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: trpm4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2025-04-09T09:09:17.424560+10:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TRPM4 as Amber List (moderate evidence)",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2025-04-09T09:09:17.418186+10:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: trpm4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPM4",
"entity_type": "gene"
}
]
}