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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=28",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=26",
"results": [
{
"created": "2026-02-21T14:47:07.710985+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ELP4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T14:47:07.538201+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ELP4 was added\ngene: ELP4 was added to Eye Anterior Segment Abnormalities. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ELP4 were set to 24290376; 17679951; 22991255; 26010655\nPhenotypes for gene: ELP4 were set to ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246\nMode of pathogenicity for gene: ELP4 was set to Other",
"entity_name": "ELP4",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:46:08.577945+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.628",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ELP4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T14:46:08.407343+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.628",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ELP4 was added\ngene: ELP4 was added to Cataract. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ELP4 were set to 24290376; 17679951; 22991255; 26010655\nPhenotypes for gene: ELP4 were set to ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246\nMode of pathogenicity for gene: ELP4 was set to Other",
"entity_name": "ELP4",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:41:58.060875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4397",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ELP4 as ready",
"entity_name": "ELP4",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:41:58.050688+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4397",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: elp4 has been classified as Green List (High Evidence).",
"entity_name": "ELP4",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:41:48.127371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4397",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ELP4 as Green List (high evidence)",
"entity_name": "ELP4",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:41:48.120573+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4397",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: elp4 has been classified as Green List (High Evidence).",
"entity_name": "ELP4",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:41:30.147170+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4396",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ELP4 was added\ngene: ELP4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ELP4 were set to 24290376; 17679951; 22991255; 26010655\nPhenotypes for gene: ELP4 were set to ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246\nMode of pathogenicity for gene: ELP4 was set to Other\nReview for gene: ELP4 was set to GREEN\nAdded comment: At least 5 families/cases reported with ocular dysgenesis. The mechanism of disease appears to be monoallelic disruption of enhancer elements located in the introns of ELP4 but required for efficient PAX6 transactivation during ocular development through a feed-forward mechanism mediated by binding of the PAX6 transcription factor \nSources: Literature",
"entity_name": "ELP4",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:27:10.465420+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.428",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene VEZF1 from panel Dilated Cardiomyopathy",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T14:27:10.304480+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.428",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VEZF1 was added\ngene: VEZF1 was added to Incidentalome. Sources: Literature\nMode of inheritance for gene: VEZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VEZF1 were set to 36657711\nPhenotypes for gene: VEZF1 were set to dilated cardiomyopathy MONDO:0005021",
"entity_name": "VEZF1",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:26:04.740693+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VEZF1 was added\ngene: VEZF1 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: VEZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VEZF1 were set to 36657711\nPhenotypes for gene: VEZF1 were set to dilated cardiomyopathy MONDO:0005021\nReview for gene: VEZF1 was set to RED\nAdded comment: A single family reported. \nSources: Literature",
"entity_name": "VEZF1",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:23:02.108865+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene NUP155 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T14:23:01.925210+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NUP155 was added\ngene: NUP155 was added to Atrial Fibrillation. Sources: Literature\nMode of inheritance for gene: NUP155 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP155 were set to 19070573\nPhenotypes for gene: NUP155 were set to familial atrial fibrillation MONDO:0018054",
"entity_name": "NUP155",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:21:48.953388+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4395",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NUP155 was added\ngene: NUP155 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NUP155 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP155 were set to 19070573\nPhenotypes for gene: NUP155 were set to familial atrial fibrillation MONDO:0018054\nReview for gene: NUP155 was set to RED\nAdded comment: A single family reported and a supporting mouse model \nSources: Literature",
"entity_name": "NUP155",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:17:32.570057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4394",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HDAC9 was added\ngene: HDAC9 was added to Mendeliome. Sources: ClinGen\ndisputed tags were added to gene: HDAC9.\nMode of inheritance for gene: HDAC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HDAC9 were set to 34750192; 35710300; 38318288\nPhenotypes for gene: HDAC9 were set to Auriculocondylar syndrome MONDO:0000107\nReview for gene: HDAC9 was set to RED\nAdded comment: Disputed classification by Craniofacial Malformations GCEP 20/11/2025\r\nhttps://search.clinicalgenome.org/CCID:009067 \nSources: ClinGen",
"entity_name": "HDAC9",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:11:32.892629+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.330",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SLC44A4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T14:11:32.709700+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.330",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC44A4 was added\ngene: SLC44A4 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: SLC44A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC44A4 were set to 28013291\nPhenotypes for gene: SLC44A4 were set to nonsyndromic genetic hearing loss MONDO:0019497",
"entity_name": "SLC44A4",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:10:18.426532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4393",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC44A4 was added\ngene: SLC44A4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC44A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC44A4 were set to 28013291\nPhenotypes for gene: SLC44A4 were set to nonsyndromic genetic hearing loss MONDO:0019497\nReview for gene: SLC44A4 was set to RED\nAdded comment: A single family reported and a supporting zebrafish model. \nSources: Literature",
"entity_name": "SLC44A4",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:07:40.950788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4392",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADGRE2 was added\ngene: ADGRE2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ADGRE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADGRE2 were set to 26841242\nPhenotypes for gene: ADGRE2 were set to autosomal dominant vibratory urticaria MONDO:0007447\nMode of pathogenicity for gene: ADGRE2 was set to Other\nReview for gene: ADGRE2 was set to RED\nAdded comment: A single family reported segregating a gain-of-function missense variant. \nSources: Literature",
"entity_name": "ADGRE2",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:03:54.556949+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.427",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PBRM1 from panel Kidney Cancer",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T14:03:54.401697+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.427",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PBRM1 was added\ngene: PBRM1 was added to Incidentalome. Sources: Literature\nMode of inheritance for gene: PBRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PBRM1 were set to 25911086\nPhenotypes for gene: PBRM1 were set to renal cell carcinoma MONDO:0005086",
"entity_name": "PBRM1",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:02:42.872156+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PBRM1 was added\ngene: PBRM1 was added to Kidney Cancer. Sources: Literature\nMode of inheritance for gene: PBRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PBRM1 were set to 25911086\nPhenotypes for gene: PBRM1 were set to renal cell carcinoma MONDO:0005086\nReview for gene: PBRM1 was set to RED\nAdded comment: A single family reported. \nSources: Literature",
"entity_name": "PBRM1",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:59:16.572045+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSG2 were set to 33831308",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:58:42.524862+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:49:47.054675+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4391",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene TEX15 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T13:49:17.701079+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4390",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TEX15 as ready",
"entity_name": "TEX15",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:49:17.692560+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4390",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tex15 has been classified as Green List (High Evidence).",
"entity_name": "TEX15",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:49:09.994057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4390",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TEX15 as Green List (high evidence)",
"entity_name": "TEX15",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:49:09.982087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4390",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tex15 has been classified as Green List (High Evidence).",
"entity_name": "TEX15",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:46:45.504989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4389",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TEX15 was added\ngene: TEX15 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TEX15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TEX15 were set to 26199321; 28355598; 28303806\nPhenotypes for gene: TEX15 were set to spermatogenic failure MONDO:0004983\nReview for gene: TEX15 was set to GREEN\nAdded comment: At least 3 families reported with infertile males and a supporting mouse model. \nSources: Literature",
"entity_name": "TEX15",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:41:55.694507+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.103",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SPINK2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T13:41:55.608330+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPINK2 was added\ngene: SPINK2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: SPINK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPINK2 were set to 28554943\nPhenotypes for gene: SPINK2 were set to spermatogenic failure MONDO:0004983",
"entity_name": "SPINK2",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:41:13.850559+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4388",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPINK2 was added\ngene: SPINK2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPINK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPINK2 were set to 28554943\nPhenotypes for gene: SPINK2 were set to spermatogenic failure MONDO:0004983\nReview for gene: SPINK2 was set to RED\nAdded comment: A single family reported and a supporting null mouse model. \nSources: Literature",
"entity_name": "SPINK2",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:41:06.816361+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092 to Microcephaly 31, primary, autosomal recessive, MIM# 621507",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:40:57.736561+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDK4: Changed phenotypes: Microcephaly 31, primary, autosomal recessive, MIM# 621507",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:40:41.538737+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092, CDK4-related to Microcephaly 31, primary, autosomal recessive, MIM# 621507",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:40:09.288746+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDK4: Changed phenotypes: Microcephaly 31, primary, autosomal recessive, MIM# 621507",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:39:56.180571+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092 to Microcephaly 31, primary, autosomal recessive, MIM# 621507",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:39:27.533239+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDK4: Changed phenotypes: Microcephaly 31, primary, autosomal recessive, MIM# 621507",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:39:12.514533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048 to Microcephaly 31, primary, autosomal recessive, MIM# 621507; {Melanoma, cutaneous malignant, 3} MIM#609048",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:38:41.979056+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDK4: Changed phenotypes: Microcephaly 31, primary, autosomal recessive, MIM# 621507",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:36:08.361037+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.102",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene AKAP3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T13:36:08.262997+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AKAP3 was added\ngene: AKAP3 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: AKAP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AKAP3 were set to 35228300; 31969357\nPhenotypes for gene: AKAP3 were set to spermatogenic failure MONDO:0004983",
"entity_name": "AKAP3",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:35:24.437941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4386",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AKAP3 as Amber List (moderate evidence)",
"entity_name": "AKAP3",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:35:24.430848+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4386",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: akap3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AKAP3",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:35:08.758920+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4385",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AKAP3 was added\ngene: AKAP3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AKAP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AKAP3 were set to 35228300; 31969357\nPhenotypes for gene: AKAP3 were set to spermatogenic failure MONDO:0004983\nReview for gene: AKAP3 was set to AMBER\nAdded comment: 2 unrelated males from consanguineous families with homozygous variants (frameshift, missense), and supporting mouse model. \nSources: Literature",
"entity_name": "AKAP3",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:14:19.079669+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.329",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GAB1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T13:14:18.893380+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.329",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GAB1 was added\ngene: GAB1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: GAB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GAB1 were set to 29408807\nPhenotypes for gene: GAB1 were set to hearing loss, autosomal recessive MONDO:0019588",
"entity_name": "GAB1",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:12:53.643380+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4384",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GAB1 was added\ngene: GAB1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GAB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GAB1 were set to 29408807\nPhenotypes for gene: GAB1 were set to hearing loss, autosomal recessive MONDO:0019588\nReview for gene: GAB1 was set to RED\nAdded comment: A single family reported. \nSources: Literature",
"entity_name": "GAB1",
"entity_type": "gene"
},
{
"created": "2026-02-21T13:04:42.916530+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.426",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SLC25A11 from panel Paraganglioma_phaeochromocytoma",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T13:04:42.566576+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.426",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC25A11 was added\ngene: SLC25A11 was added to Incidentalome. Sources: Expert Review Red,Literature,Expert Review,Expert list\nMode of inheritance for gene: SLC25A11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC25A11 were set to PMID: 29431636\nPhenotypes for gene: SLC25A11 were set to Paragangliomas 6, MONDO:0032767; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 6, MIM#618464",
"entity_name": "SLC25A11",
"entity_type": "gene"
},
{
"created": "2026-02-21T12:59:35.668984+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4383",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TIMELESS as ready",
"entity_name": "TIMELESS",
"entity_type": "gene"
},
{
"created": "2026-02-21T12:59:35.652742+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4383",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: timeless has been classified as Red List (Low Evidence).",
"entity_name": "TIMELESS",
"entity_type": "gene"
},
{
"created": "2026-02-21T12:59:25.653198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4383",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TIMELESS was added\ngene: TIMELESS was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TIMELESS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TIMELESS were set to 31138685\nPhenotypes for gene: TIMELESS were set to Advance sleep phase syndrome MONDO:0015609\nReview for gene: TIMELESS was set to RED\nAdded comment: A single family reported, and a supporting mouse model \nSources: Literature",
"entity_name": "TIMELESS",
"entity_type": "gene"
},
{
"created": "2026-02-21T12:54:34.042707+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4382",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RPL21 from panel Hair disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T12:54:33.176723+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4382",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPL21 was added\ngene: RPL21 was added to Mendeliome. Sources: Expert Review Red,NHS GMS\nMode of inheritance for gene: RPL21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL21 were set to 21412954\nPhenotypes for gene: RPL21 were set to Hypotrichosis 12 MIM#615885",
"entity_name": "RPL21",
"entity_type": "gene"
},
{
"created": "2026-02-21T12:54:02.493545+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: RPL21: Changed rating: RED",
"entity_name": "RPL21",
"entity_type": "gene"
},
{
"created": "2026-02-21T12:32:47.365683+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4381",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IGSF3 was added\ngene: IGSF3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IGSF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IGSF3 were set to 24372406\nPhenotypes for gene: IGSF3 were set to familial congenital nasolacrimal duct obstruction MONDO:0007871\nReview for gene: IGSF3 was set to RED\nAdded comment: A single consanguineous family reported with a homozygous variant. \nSources: Literature",
"entity_name": "IGSF3",
"entity_type": "gene"
},
{
"created": "2026-02-21T12:29:43.960861+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4380",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PER3 was added\ngene: PER3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PER3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PER3 were set to 26903630\nPhenotypes for gene: PER3 were set to advanced sleep phase syndrome MONDO:0015609\nReview for gene: PER3 was set to RED\nAdded comment: A haplotype (P415A and H417R) segregating in a single family and common in gnomAD (0.5%). \nSources: Literature",
"entity_name": "PER3",
"entity_type": "gene"
},
{
"created": "2026-02-21T12:21:42.083831+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.328",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PDE1C from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T12:21:41.871987+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.328",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDE1C was added\ngene: PDE1C was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: PDE1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDE1C were set to 29860631\nPhenotypes for gene: PDE1C were set to autosomal dominant nonsyndromic hearing loss MONDO:0019587",
"entity_name": "PDE1C",
"entity_type": "gene"
},
{
"created": "2026-02-21T12:20:22.953219+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4379",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDE1C was added\ngene: PDE1C was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PDE1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDE1C were set to 29860631\nPhenotypes for gene: PDE1C were set to autosomal dominant nonsyndromic hearing loss MONDO:0019587\nReview for gene: PDE1C was set to RED\nAdded comment: A single family reported. \nSources: Literature",
"entity_name": "PDE1C",
"entity_type": "gene"
},
{
"created": "2026-02-21T12:17:36.562181+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.327",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PI4KB from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T12:17:36.377318+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.327",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PI4KB was added\ngene: PI4KB was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Literature\nMode of inheritance for gene: PI4KB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PI4KB were set to 33358777\nPhenotypes for gene: PI4KB were set to hearing loss, autosomal dominant 87 MONDO:0859525",
"entity_name": "PI4KB",
"entity_type": "gene"
},
{
"created": "2026-02-21T12:16:14.996104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4378",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PI4KB as Green List (high evidence)",
"entity_name": "PI4KB",
"entity_type": "gene"
},
{
"created": "2026-02-21T12:16:14.985670+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4378",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pi4kb has been classified as Green List (High Evidence).",
"entity_name": "PI4KB",
"entity_type": "gene"
},
{
"created": "2026-02-21T12:15:58.496245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4377",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PI4KB was added\ngene: PI4KB was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PI4KB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PI4KB were set to 33358777\nPhenotypes for gene: PI4KB were set to hearing loss, autosomal dominant 87 MONDO:0859525\nReview for gene: PI4KB was set to GREEN\nAdded comment: A missense variant (p.Gln121Arg) segregating in a family and 3 other missense variants (p.Val434Gly, p.Glu667Lys, p.Met739Arg) were identified in 5 unrelated \"sporadic\" cases. All 4 missense variants were overexpressed in zebrafish embryos, resulting in impaired hearing function, and a null zebrafish model had inner ear abnormalities and audiosensory impairment. Missense showed to have dominant negative effects. \nSources: Literature",
"entity_name": "PI4KB",
"entity_type": "gene"
},
{
"created": "2026-02-21T11:34:03.570180+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4376",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MARK3 as ready",
"entity_name": "MARK3",
"entity_type": "gene"
},
{
"created": "2026-02-21T11:34:03.562340+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4376",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mark3 has been classified as Red List (Low Evidence).",
"entity_name": "MARK3",
"entity_type": "gene"
},
{
"created": "2026-02-21T11:33:39.708282+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4376",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MARK3 was added\ngene: MARK3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MARK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MARK3 were set to 29771303\nPhenotypes for gene: MARK3 were set to visual impairment and progressive phthisis bulbi MONDO:0032655\nReview for gene: MARK3 was set to RED\nAdded comment: A single consanguineous family with a homozygous variant and a supporting drosphila model. \nSources: Literature",
"entity_name": "MARK3",
"entity_type": "gene"
},
{
"created": "2026-02-21T11:26:45.218750+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.200",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene NRIP1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T11:26:44.679887+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.200",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NRIP1 was added\ngene: NRIP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Literature\nMode of inheritance for gene: NRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NRIP1 were set to 28381549; 34525250\nPhenotypes for gene: NRIP1 were set to congenital anomalies of kidney and urinary tract 3 MONDO:0032646",
"entity_name": "NRIP1",
"entity_type": "gene"
},
{
"created": "2026-02-21T11:25:29.058071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4375",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NRIP1 as ready",
"entity_name": "NRIP1",
"entity_type": "gene"
},
{
"created": "2026-02-21T11:25:29.051111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4375",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nrip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NRIP1",
"entity_type": "gene"
},
{
"created": "2026-02-21T11:25:09.420826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4375",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NRIP1 as Amber List (moderate evidence)",
"entity_name": "NRIP1",
"entity_type": "gene"
},
{
"created": "2026-02-21T11:25:09.410996+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4375",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nrip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NRIP1",
"entity_type": "gene"
},
{
"created": "2026-02-21T11:24:45.328125+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4374",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NRIP1 was added\ngene: NRIP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NRIP1 were set to 28381549; 34525250\nPhenotypes for gene: NRIP1 were set to congenital anomalies of kidney and urinary tract 3 MONDO:0032646\nReview for gene: NRIP1 was set to AMBER\nAdded comment: 2 families segregating 2 different truncating variants, with incomplete penetrance (1 unaffected carrier). Also, a supporting mouse model. Another case reported with a missense variant inherited from the unaffected mother. \nSources: Literature",
"entity_name": "NRIP1",
"entity_type": "gene"
},
{
"created": "2026-02-21T11:13:30.855366+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4373",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SALL2 from panel Anophthalmia_Microphthalmia_Coloboma",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T11:13:29.972865+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4373",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SALL2 was added\ngene: SALL2 was added to Mendeliome. Sources: Expert Review Red,Other\nMode of inheritance for gene: SALL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SALL2 were set to 24412933\nPhenotypes for gene: SALL2 were set to Coloboma, ocular, autosomal recessive, MIM#16820",
"entity_name": "SALL2",
"entity_type": "gene"
},
{
"created": "2026-02-21T11:11:11.388108+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.101",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene BRDT from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T11:11:11.295901+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.101",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BRDT was added\ngene: BRDT was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: BRDT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRDT were set to 32469048; 28199965; 22922464\nPhenotypes for gene: BRDT were set to Spermatogenic failure MONDO:0004983",
"entity_name": "BRDT",
"entity_type": "gene"
},
{
"created": "2026-02-21T11:10:53.123828+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4372",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BRDT as ready",
"entity_name": "BRDT",
"entity_type": "gene"
},
{
"created": "2026-02-21T11:10:53.116481+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4372",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: brdt has been classified as Amber List (Moderate Evidence).",
"entity_name": "BRDT",
"entity_type": "gene"
},
{
"created": "2026-02-21T11:09:58.182824+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4372",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BRDT as Amber List (moderate evidence)",
"entity_name": "BRDT",
"entity_type": "gene"
},
{
"created": "2026-02-21T11:09:58.175962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4372",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: brdt has been classified as Amber List (Moderate Evidence).",
"entity_name": "BRDT",
"entity_type": "gene"
},
{
"created": "2026-02-21T11:09:43.629881+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4371",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BRDT was added\ngene: BRDT was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BRDT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRDT were set to 32469048; 28199965; 22922464\nPhenotypes for gene: BRDT were set to Spermatogenic failure MONDO:0004983\nReview for gene: BRDT was set to AMBER\nAdded comment: 2 cases with 2 different homozygous missense (one with a suggestive gain-of-function mechanism - G928D). A null mouse model had meiotic arrest of spermatogenesis. \nSources: Literature",
"entity_name": "BRDT",
"entity_type": "gene"
},
{
"created": "2026-02-21T10:56:50.354590+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene MAPKAPK3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T10:56:50.262108+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAPKAPK3 was added\ngene: MAPKAPK3 was added to Macular Dystrophy/Stargardt Disease. Sources: Literature\nMode of inheritance for gene: MAPKAPK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPKAPK3 were set to 26744326\nPhenotypes for gene: MAPKAPK3 were set to patterned macular dystrophy 3 MONDO:0014920",
"entity_name": "MAPKAPK3",
"entity_type": "gene"
},
{
"created": "2026-02-21T10:56:10.264182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4370",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAPKAPK3 was added\ngene: MAPKAPK3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAPKAPK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPKAPK3 were set to 26744326\nPhenotypes for gene: MAPKAPK3 were set to patterned macular dystrophy 3 MONDO:0014920\nReview for gene: MAPKAPK3 was set to RED\nAdded comment: A single family reported, and a supporting mouse model \nSources: Literature",
"entity_name": "MAPKAPK3",
"entity_type": "gene"
},
{
"created": "2026-02-21T10:01:14.572438+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.100",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TAF4B from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T10:01:14.485695+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TAF4B was added\ngene: TAF4B was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TAF4B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAF4B were set to 24431330; 15774719\nPhenotypes for gene: TAF4B were set to spermatogenic failure MONDO:0004983",
"entity_name": "TAF4B",
"entity_type": "gene"
},
{
"created": "2026-02-20T23:15:06.119103+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.425",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene HOXB13 from panel Prostate Cancer",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-20T23:15:05.878673+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.425",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HOXB13 was added\ngene: HOXB13 was added to Incidentalome. Sources: Expert Review Green,Literature,Expert Review,Expert list\nMode of inheritance for gene: HOXB13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HOXB13 were set to PMID: 22236224, 30730552, 38766261\nPhenotypes for gene: HOXB13 were set to Prostate cancer, MONDO:0008315; Prostate cancer, susceptibility to, MIM#610997",
"entity_name": "HOXB13",
"entity_type": "gene"
},
{
"created": "2026-02-20T23:00:36.836303+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4369",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TAF4B was added\ngene: TAF4B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TAF4B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAF4B were set to 24431330; 15774719\nPhenotypes for gene: TAF4B were set to spermatogenic failure MONDO:0004983\nReview for gene: TAF4B was set to RED\nAdded comment: A single family reported and a supporting mouse model. \nSources: Literature",
"entity_name": "TAF4B",
"entity_type": "gene"
},
{
"created": "2026-02-20T22:49:21.912239+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.627",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CRYBA2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-20T22:49:21.668564+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.627",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CRYBA2 was added\ngene: CRYBA2 was added to Cataract. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CRYBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CRYBA2 were set to 23508780; 37438446; 21212184; 38909969; 34014271; 28450710\nPhenotypes for gene: CRYBA2 were set to cataract MONDO:0005129",
"entity_name": "CRYBA2",
"entity_type": "gene"
},
{
"created": "2026-02-20T22:48:10.642816+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4368",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CRYBA2 as ready",
"entity_name": "CRYBA2",
"entity_type": "gene"
},
{
"created": "2026-02-20T22:48:10.629431+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4368",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cryba2 has been classified as Green List (High Evidence).",
"entity_name": "CRYBA2",
"entity_type": "gene"
},
{
"created": "2026-02-20T22:48:02.925403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4368",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CRYBA2 as Green List (high evidence)",
"entity_name": "CRYBA2",
"entity_type": "gene"
}
]
}